{ "batchid": 2, "recordid": "Q93063-1", "recordtype": "protein", "sections": { "snv": [ { "evidence": [ { "id": "rs1326355711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1326355711" }, { "id": "rs1326355711", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1326355711#frequency_tab" }, { "id": "rs1326355711", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1326355711" } ], "glycoeffect": [], "start_pos": 171, "end_pos": 171, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44108223", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A171", "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" } ] }, { "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" } ] }, { "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": "rs149621055", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149621055" }, { "id": "rs149621055", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149621055" }, { "id": "rs149621055", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149621055#frequency_tab" }, { "id": "rs149621055", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149621055" } ], "glycoeffect": [], "start_pos": 171, "end_pos": 171, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44108224", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A171", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs121918279", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121918279" }, { "id": "rs121918279", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121918279" }, { "id": "10679937", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/10679937" }, { "id": "19344451", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19344451" } ], "glycoeffect": [], "start_pos": 172, "end_pos": 172, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44108226", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q172", "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" } ] }, { "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" } ] }, { "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" } ] }, { "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": "rs121918279", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121918279" }, { "id": "rs121918279", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121918279" } ], "glycoeffect": [], "start_pos": 172, "end_pos": 172, "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44108226", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q172", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs121918279", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121918279" }, { "id": "rs121918279", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121918279" } ], "glycoeffect": [], "start_pos": 172, "end_pos": 172, "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44108226", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q172", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1264436933", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1264436933" }, { "id": "rs1264436933", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1264436933#frequency_tab" }, { "id": "rs1264436933", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1264436933" } ], "glycoeffect": [], "start_pos": 173, "end_pos": 173, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44108230", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A173", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1246286390", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1246286390" }, { "id": "rs1246286390", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1246286390" } ], "glycoeffect": [], "start_pos": 173, "end_pos": 173, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44108229", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A173", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q93063", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063" }, { "id": "rs1264436933", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1264436933" }, { "id": "rs1264436933", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1264436933#frequency_tab" }, { "id": "rs1264436933", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1264436933" }, { "id": "rs1264436933", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1264436933" } ], "glycoeffect": [], "start_pos": 173, "end_pos": 173, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "44108230", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A173", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:5166", "DOID:4114", "DOID:2021", "DOID:9460" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "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" } ] }, { "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" } ] }, { "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": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs2134968744", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134968744" } ], "glycoeffect": [], "start_pos": 173, "end_pos": 173, "sequence_org": "A", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44108228", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A173", "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": "Q93063", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063" }, { "id": "rs2134968842", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134968842" }, { "id": "rs2134968842", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134968842" } ], "glycoeffect": [], "start_pos": 174, "end_pos": 174, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "M", "sequence_mut": "I", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "44108234", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "M174", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs111589746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs111589746" }, { "id": "rs111589746", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs111589746" }, { "id": "rs111589746", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs111589746" }, { "id": "rs111589746", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs111589746#frequency_tab" }, { "id": "rs111589746", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs111589746" } ], "glycoeffect": [], "start_pos": 174, "end_pos": 174, "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44108232", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000588697", "site_lbl": "M174", "keywords": [ "ebi", "germline", "disease" ], "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] } ] }, { "evidence": [ { "id": "rs758457210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758457210" }, { "id": "rs758457210", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758457210" }, { "id": "rs758457210", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758457210#frequency_tab" }, { "id": "rs758457210", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758457210" } ], "glycoeffect": [], "start_pos": 174, "end_pos": 174, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44108233", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M174", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1284937347", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1284937347" }, { "id": "rs1284937347", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1284937347" } ], "glycoeffect": [], "start_pos": 175, "end_pos": 175, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44108235", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A175", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1284937347", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1284937347" }, { "id": "rs1284937347", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1284937347" }, { "id": "rs1284937347", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1284937347" } ], "glycoeffect": [], "start_pos": 175, "end_pos": 175, "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44108235", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A175", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs572302586", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572302586" }, { "id": "rs572302586", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs572302586" }, { "id": "rs572302586", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572302586" }, { "id": "rs572302586", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs572302586" } ], "glycoeffect": [], "start_pos": 176, "end_pos": 176, "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44108238", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "Q176", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2539518090", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2539518090" }, { "id": "rs1954091429", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1954091429" }, { "id": "rs1954091429", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1954091429" } ], "glycoeffect": [], "start_pos": 177, "end_pos": 177, "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44108240_44108241delin", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L177", "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": "rs747164239", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747164239" }, { "id": "rs747164239", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747164239" }, { "id": "rs747164239", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747164239#frequency_tab" }, { "id": "rs747164239", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747164239" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 178, "end_pos": 178, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44108245", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S178", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2134968896", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134968896" }, { "id": "rs2134968896", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134968896" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 178, "end_pos": 178, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44108244", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S178", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1381023755", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1381023755" }, { "id": "rs1381023755", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1381023755" } ], "glycoeffect": [], "start_pos": 179, "end_pos": 179, "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44108248", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R179", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q93063", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063" } ], "glycoeffect": [], "start_pos": 179, "end_pos": 179, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "M", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "44108248", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R179", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs766384158", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766384158" }, { "id": "rs766384158", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766384158" }, { "id": "rs766384158", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766384158#frequency_tab" }, { "id": "rs766384158", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766384158" } ], "glycoeffect": [], "start_pos": 179, "end_pos": 179, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109194", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R179", "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" } ] }, { "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" } ] }, { "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" } ] }, { "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": "rs1381023755", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1381023755" }, { "id": "rs1381023755", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1381023755" } ], "glycoeffect": [], "start_pos": 179, "end_pos": 179, "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44108248", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R179", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q93063", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" }, { "id": "", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=" } ], "glycoeffect": [], "start_pos": 17, "end_pos": 17, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "I", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "44107762", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R17", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:5166", "DOID:4114", "DOID:2021", "DOID:9460" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1240693088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1240693088" }, { "id": "rs1240693088", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1240693088#frequency_tab" }, { "id": "rs1240693088", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1240693088" }, { "id": "rs1240693088", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1240693088" } ], "glycoeffect": [], "start_pos": 17, "end_pos": 17, "sequence_org": "R", "sequence_mut": "K", "comment": "Somatic mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44107762", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R17", "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" } ] }, { "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" } ] }, { "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", "somatic", "disease" ] }, { "evidence": [ { "id": "rs1240693088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1240693088" }, { "id": "rs1240693088", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1240693088#frequency_tab" }, { "id": "rs1240693088", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1240693088" } ], "glycoeffect": [], "start_pos": 17, "end_pos": 17, "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44107762", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R17", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs886039565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs886039565" }, { "id": "rs886039565", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs886039565" }, { "id": "rs2134971524", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134971524" }, { "id": "rs2134971524", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134971524" } ], "glycoeffect": [], "start_pos": 180, "end_pos": 180, "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109196", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W180", "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" } ] }, { "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" } ] }, { "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" } ] }, { "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": "Q93063", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" }, { "id": "", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=" } ], "glycoeffect": [], "start_pos": 181, "end_pos": 181, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "44109198", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D181", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "Q93063", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063" }, { "id": "rs886039358", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs886039358" }, { "id": "rs886039358", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs886039358" }, { "id": "rs886039358", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs886039358" } ], "glycoeffect": [], "start_pos": 182, "end_pos": 182, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "*", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "44109201", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R182", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3451", "DOID:3149" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:5166", "DOID:4114", "DOID:2021", "DOID:9460" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "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" } ] }, { "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": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs563383543", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs563383543" }, { "id": "rs563383543", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs563383543" }, { "id": "rs563383543", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs563383543" }, { "id": "rs563383543", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs563383543#frequency_tab" }, { "id": "rs563383543", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs563383543" } ], "glycoeffect": [], "start_pos": 182, "end_pos": 182, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109202", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R182", "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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": "Q93063", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063" }, { "id": "rs563383543", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs563383543" }, { "id": "rs563383543", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs563383543" }, { "id": "rs563383543", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs563383543" }, { "id": "rs563383543", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs563383543#frequency_tab" }, { "id": "rs563383543", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs563383543" }, { "id": "rs563383543", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs563383543" } ], "glycoeffect": [], "start_pos": 182, "end_pos": 182, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "44109202", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R182", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "Q93063", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" }, { "id": "", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=" } ], "glycoeffect": [], "start_pos": 183, "end_pos": 183, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "C", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "44109204", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G183", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3451", "DOID:3149" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1301437376", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1301437376" }, { "id": "rs1301437376", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1301437376" }, { "id": "rs1301437376", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1301437376" } ], "glycoeffect": [], "start_pos": 183, "end_pos": 183, "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109205", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G183", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs368388870", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368388870" }, { "id": "rs368388870", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368388870" }, { "id": "rs368388870", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368388870#frequency_tab" }, { "id": "rs368388870", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368388870" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 184, "end_pos": 184, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109207", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T184", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1392801406", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1392801406" }, { "id": "rs1392801406", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1392801406" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 184, "end_pos": 184, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109208", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T184", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1329052079", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1329052079" }, { "id": "rs1329052079", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1329052079" } ], "glycoeffect": [], "start_pos": 185, "end_pos": 185, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109212", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N185", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" }, { "id": "", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=" } ], "glycoeffect": [], "start_pos": 186, "end_pos": 186, "sequence_org": "H", "sequence_mut": "R", "comment": "Somatic mutation passed 0 out of 0 filters:", "chr_id": "NC_000011.10", "chr_pos": "44109214", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "H186", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "Q93063", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" }, { "id": "", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=" } ], "glycoeffect": [], "start_pos": 186, "end_pos": 186, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "Y", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "44109213", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H186", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3451", "DOID:3149" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "Q93063", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" }, { "id": "", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=" } ], "glycoeffect": [], "start_pos": 188, "end_pos": 188, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "W", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "44109220", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L188", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3451", "DOID:3149" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1954106603", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1954106603" } ], "glycoeffect": [], "start_pos": 188, "end_pos": 188, "sequence_org": "L", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109218_44109220GTT", "ref_nt": "]", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L188", "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": "rs1954106878", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1954106878" }, { "id": "rs1954106878", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1954106878#frequency_tab" } ], "glycoeffect": [], "start_pos": 189, "end_pos": 189, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109224", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F189", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2539521507", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2539521507" } ], "glycoeffect": [], "start_pos": 189, "end_pos": 189, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109223", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F189", "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": "rs1368653758", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1368653758" }, { "id": "rs1368653758", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1368653758#frequency_tab" } ], "glycoeffect": [], "start_pos": 18, "end_pos": 18, "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44107764", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M18", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1324170921", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1324170921" }, { "id": "rs1324170921", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1324170921" } ], "glycoeffect": [], "start_pos": 191, "end_pos": 191, "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109228", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M191", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778431321", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778431321" }, { "id": "rs778431321", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778431321" }, { "id": "rs778431321", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778431321#frequency_tab" }, { "id": "rs778431321", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778431321" } ], "glycoeffect": [], "start_pos": 191, "end_pos": 191, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109229", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M191", "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" } ] }, { "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" } ] }, { "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" } ] }, { "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": "rs1324170921", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1324170921" }, { "id": "rs1324170921", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1324170921" } ], "glycoeffect": [], "start_pos": 191, "end_pos": 191, "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109228", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M191", "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" } ] }, { "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": "rs1454055188", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1454055188" }, { "id": "rs1454055188", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1454055188#frequency_tab" } ], "glycoeffect": [], "start_pos": 193, "end_pos": 193, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109234", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P193", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs886039566", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs886039566" }, { "id": "rs886039566", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs886039566" } ], "glycoeffect": [], "start_pos": 194, "end_pos": 194, "sequence_org": "G", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109237", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G194", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q93063", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" }, { "id": "", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=" } ], "glycoeffect": [], "start_pos": 194, "end_pos": 194, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "44109238", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G194", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3451", "DOID:3149" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" }, { "id": "", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=" } ], "glycoeffect": [], "start_pos": 195, "end_pos": 195, "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 0 out of 0 filters:", "chr_id": "NC_000011.10", "chr_pos": "44109240", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G195", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs921598209", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs921598209" }, { "id": "rs921598209", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs921598209#frequency_tab" }, { "id": "rs921598209", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs921598209" }, { "id": "rs921598209", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs921598209" } ], "glycoeffect": [], "start_pos": 195, "end_pos": 195, "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109241", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G195", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "Q93063", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063" }, { "id": "rs2134971770", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134971770" }, { "id": "rs2134971770", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134971770" }, { "id": "rs2134971770", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2134971770" } ], "glycoeffect": [], "start_pos": 196, "end_pos": 196, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "44109244", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P196", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3451", "DOID:3149" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "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" } ] }, { "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": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1429828657", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1429828657" }, { "id": "rs1429828657", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1429828657#frequency_tab" }, { "id": "rs1429828657", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1429828657" } ], "glycoeffect": [], "start_pos": 196, "end_pos": 196, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109243", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P196", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1565197245", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1565197245" } ], "glycoeffect": [], "start_pos": 197, "end_pos": 197, "sequence_org": "P", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109247", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P197", "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": "rs773958136", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773958136" }, { "id": "rs773958136", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773958136" }, { "id": "rs773958136", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773958136#frequency_tab" }, { "id": "rs773958136", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773958136" } ], "glycoeffect": [], "start_pos": 198, "end_pos": 198, "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109250", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D198", "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" } ] }, { "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" } ] }, { "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" } ] }, { "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": "Q93063", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" }, { "id": "", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=" } ], "glycoeffect": [], "start_pos": 198, "end_pos": 198, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "Y", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "44109249", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D198", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:5166", "DOID:4114", "DOID:2021", "DOID:9460" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1954107753", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1954107753" }, { "id": "rs1954107753", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1954107753" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 199, "end_pos": 199, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109253", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y199", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1049307697", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1049307697" }, { "id": "rs1049307697", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1049307697#frequency_tab" }, { "id": "rs1049307697", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1049307697" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 199, "end_pos": 199, "sequence_org": "Y", "sequence_mut": "D", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109252", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y199", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1049307697", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1049307697" }, { "id": "rs1049307697", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1049307697#frequency_tab" }, { "id": "rs1049307697", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1049307697" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 199, "end_pos": 199, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109252", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y199", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2539514357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2539514357" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 19, "end_pos": 19, "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44107768", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K19", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1085307877", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1085307877" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 19, "end_pos": 19, "sequence_org": "K", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44107768", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K19", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1954107822", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1954107822" }, { "id": "rs1954107822", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1954107822" } ], "glycoeffect": [], "start_pos": 200, "end_pos": 200, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109256", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N200", "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" } ] }, { "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": "rs1954107890", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1954107890" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 201, "end_pos": 201, "sequence_org": "T", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109257_44109258CA", "ref_nt": "]", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T201", "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": "rs771803942", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771803942" }, { "id": "rs771803942", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771803942" }, { "id": "rs771803942", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771803942#frequency_tab" }, { "id": "rs771803942", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771803942" } ], "glycoeffect": [], "start_pos": 202, "end_pos": 202, "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109262", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A202", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" }, { "id": "", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 202, "end_pos": 202, "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 0 out of 0 filters:", "chr_id": "NC_000011.10", "chr_pos": "44109261", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A202", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs745338994", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745338994" }, { "id": "rs745338994", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745338994" }, { "id": "rs745338994", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745338994" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 202, "end_pos": 202, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109261", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A202", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771803942", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771803942" }, { "id": "rs771803942", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771803942" }, { "id": "rs771803942", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771803942#frequency_tab" }, { "id": "rs771803942", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771803942" } ], "glycoeffect": [], "start_pos": 202, "end_pos": 202, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109262", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A202", "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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": "rs1270292024", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1270292024" }, { "id": "rs1270292024", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1270292024" } ], "glycoeffect": [], "start_pos": 203, "end_pos": 203, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109265", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L203", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760582583", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760582583" }, { "id": "rs760582583", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760582583" }, { "id": "rs760582583", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760582583#frequency_tab" }, { "id": "rs760582583", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760582583" } ], "glycoeffect": [], "start_pos": 204, "end_pos": 204, "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109268", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D204", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763726934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763726934" }, { "id": "rs763726934", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763726934" }, { "id": "rs763726934", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763726934" } ], "glycoeffect": [], "start_pos": 204, "end_pos": 204, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109269", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D204", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2539521823", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2539521823" } ], "glycoeffect": [], "start_pos": 204, "end_pos": 204, "sequence_org": "D", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109267", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D204", "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": "Q93063", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063" }, { "id": "rs1375161394", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1375161394" }, { "id": "rs1375161394", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1375161394" } ], "glycoeffect": [], "start_pos": 205, "end_pos": 205, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "A", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "44109271", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "V205", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:5166", "DOID:4114", "DOID:2021", "DOID:9460" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs2134971924", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134971924" }, { "id": "rs2134971924", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134971924" } ], "glycoeffect": [], "start_pos": 205, "end_pos": 205, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109270", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V205", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1462766582", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1462766582" }, { "id": "rs1462766582", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1462766582" } ], "glycoeffect": [], "start_pos": 206, "end_pos": 206, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109273", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P206", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" }, { "id": "", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=" } ], "glycoeffect": [], "start_pos": 206, "end_pos": 206, "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 0 out of 0 filters:", "chr_id": "NC_000011.10", "chr_pos": "44109273", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P206", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "Q93063", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" }, { "id": "", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=" } ], "glycoeffect": [], "start_pos": 208, "end_pos": 208, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "A", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "44109280", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "D208", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:5166", "DOID:4114", "DOID:2021", "DOID:9460" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1369557666", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1369557666" }, { "id": "rs1369557666", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1369557666" } ], "glycoeffect": [], "start_pos": 208, "end_pos": 208, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109281", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D208", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" } ], "glycoeffect": [], "start_pos": 209, "end_pos": 209, "sequence_org": "R", "sequence_mut": "=", "comment": "Somatic mutation passed 0 out of 0 filters:", "chr_id": "NC_000011.10", "chr_pos": "44114185", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R209", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs2134971988", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134971988" }, { "id": "rs2134971988", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134971988" } ], "glycoeffect": [], "start_pos": 209, "end_pos": 209, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109282", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R209", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1954108683", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1954108683" }, { "id": "rs1954108683", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1954108683#frequency_tab" } ], "glycoeffect": [], "start_pos": 209, "end_pos": 209, "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44109283", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R209", "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" } ] }, { "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": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" }, { "id": "", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=" } ], "glycoeffect": [], "start_pos": 209, "end_pos": 209, "sequence_org": "R", "sequence_mut": "M", "comment": "Somatic mutation passed 0 out of 0 filters:", "chr_id": "NC_000011.10", "chr_pos": "44109283", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R209", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs2134984075", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984075" }, { "id": "rs2134984075", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984075" } ], "glycoeffect": [], "start_pos": 209, "end_pos": 209, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114185", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R209", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2134965323", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134965323" }, { "id": "rs2134965323", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134965323" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 20, "end_pos": 20, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44107771", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T20", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2134965323", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134965323" }, { "id": "rs2134965323", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134965323" } ], "glycoeffect": [], "start_pos": 20, "end_pos": 20, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44107771", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T20", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1292697365", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1292697365" }, { "id": "rs1292697365", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1292697365#frequency_tab" }, { "id": "rs1292697365", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1292697365" } ], "glycoeffect": [], "start_pos": 210, "end_pos": 210, "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114187", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A210", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1292697365", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1292697365" }, { "id": "rs1292697365", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1292697365#frequency_tab" }, { "id": "rs1292697365", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1292697365" } ], "glycoeffect": [], "start_pos": 210, "end_pos": 210, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114187", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A210", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746580720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746580720" }, { "id": "rs746580720", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746580720" }, { "id": "rs746580720", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746580720" } ], "glycoeffect": [], "start_pos": 210, "end_pos": 210, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114186", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A210", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746580720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746580720" }, { "id": "rs746580720", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746580720" }, { "id": "rs746580720", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746580720" }, { "id": "rs746580720", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs746580720" } ], "glycoeffect": [], "start_pos": 210, "end_pos": 210, "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114186", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A210", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1292697365", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1292697365" }, { "id": "rs1292697365", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1292697365#frequency_tab" }, { "id": "rs1292697365", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1292697365" } ], "glycoeffect": [], "start_pos": 210, "end_pos": 210, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114187", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A210", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2134984140", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984140" }, { "id": "rs2134984140", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984140" }, { "id": "rs2134984140", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2134984140" } ], "glycoeffect": [], "start_pos": 211, "end_pos": 211, "sequence_org": "L", "sequence_mut": "M", "comment": "Somatic mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114189", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L211", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1954187329", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1954187329" }, { "id": "rs1954187329", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1954187329" } ], "glycoeffect": [], "start_pos": 211, "end_pos": 211, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114190", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L211", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1954187329", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1954187329" }, { "id": "rs1954187329", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1954187329" } ], "glycoeffect": [], "start_pos": 211, "end_pos": 211, "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114190", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L211", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2134984140", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984140" }, { "id": "rs2134984140", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984140" } ], "glycoeffect": [], "start_pos": 211, "end_pos": 211, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114189", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L211", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs532468542", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs532468542" }, { "id": "rs532468542", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs532468542" }, { "id": "rs532468542", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs532468542" }, { "id": "rs532468542", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs532468542#frequency_tab" }, { "id": "rs532468542", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs532468542" } ], "glycoeffect": [], "start_pos": 212, "end_pos": 212, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114194", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "L212", "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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": "rs2134984241", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984241" }, { "id": "rs2134984241", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984241" } ], "glycoeffect": [], "start_pos": 213, "end_pos": 213, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114196", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A213", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2134984225", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984225" }, { "id": "rs2134984225", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984225" } ], "glycoeffect": [], "start_pos": 213, "end_pos": 213, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114195", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A213", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2134984225", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984225" }, { "id": "rs2134984225", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984225" } ], "glycoeffect": [], "start_pos": 213, "end_pos": 213, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114195", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A213", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2134984225", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984225" }, { "id": "rs2134984225", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984225" } ], "glycoeffect": [], "start_pos": 213, "end_pos": 213, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114195", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A213", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2134984241", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984241" }, { "id": "rs2134984241", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984241" } ], "glycoeffect": [], "start_pos": 213, "end_pos": 213, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114196", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A213", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2134984294", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984294" }, { "id": "rs2134984294", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984294" } ], "glycoeffect": [], "start_pos": 214, "end_pos": 214, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114199", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G214", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs550761834", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs550761834" }, { "id": "rs550761834", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs550761834" }, { "id": "rs550761834", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs550761834" }, { "id": "rs550761834", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs550761834#frequency_tab" }, { "id": "rs550761834", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs550761834" } ], "glycoeffect": [], "start_pos": 214, "end_pos": 214, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114198", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "G214", "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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": "rs2134984294", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984294" }, { "id": "rs2134984294", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984294" } ], "glycoeffect": [], "start_pos": 214, "end_pos": 214, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114199", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G214", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs550761834", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs550761834" }, { "id": "rs550761834", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs550761834" }, { "id": "rs550761834", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs550761834" }, { "id": "rs550761834", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs550761834#frequency_tab" }, { "id": "rs550761834", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs550761834" } ], "glycoeffect": [], "start_pos": 214, "end_pos": 214, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114198", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "G214", "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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": "rs2134984294", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984294" }, { "id": "rs2134984294", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984294" } ], "glycoeffect": [], "start_pos": 214, "end_pos": 214, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114199", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G214", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2134984348", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984348" }, { "id": "rs2134984348", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984348" } ], "glycoeffect": [], "start_pos": 215, "end_pos": 215, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114202", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G215", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2134984348", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984348" }, { "id": "rs2134984348", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984348" } ], "glycoeffect": [], "start_pos": 215, "end_pos": 215, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114202", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G215", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2134984329", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984329" }, { "id": "rs2134984329", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984329" } ], "glycoeffect": [], "start_pos": 215, "end_pos": 215, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114201", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G215", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q93063", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063" }, { "id": "rs2134984329", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984329" }, { "id": "rs2134984329", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984329" }, { "id": "rs2134984329", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2134984329" } ], "glycoeffect": [], "start_pos": 215, "end_pos": 215, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "S", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "44114201", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G215", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs2134984348", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984348" }, { "id": "rs2134984348", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984348" }, { "id": "rs2134984348", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2134984348" } ], "glycoeffect": [], "start_pos": 215, "end_pos": 215, "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114202", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G215", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs2134984414", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984414" }, { "id": "rs2134984414", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984414" } ], "glycoeffect": [], "start_pos": 216, "end_pos": 216, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114205", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G216", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q93063", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063" }, { "id": "rs2134984414", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984414" }, { "id": "rs2134984414", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984414" } ], "glycoeffect": [], "start_pos": 216, "end_pos": 216, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "D", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "44114205", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G216", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:1659", "DOID:4203", "DOID:368", "DOID:3541", "DOID:4706" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1208541215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1208541215" }, { "id": "rs1208541215", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1208541215#frequency_tab" }, { "id": "rs1208541215", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1208541215" } ], "glycoeffect": [], "start_pos": 216, "end_pos": 216, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114204", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G216", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1208541215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1208541215" }, { "id": "rs1208541215", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1208541215#frequency_tab" }, { "id": "rs1208541215", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1208541215" } ], "glycoeffect": [], "start_pos": 216, "end_pos": 216, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114204", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G216", "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" } ] }, { "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" } ] }, { "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": "rs2134984445", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984445" }, { "id": "rs2134984445", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984445" } ], "glycoeffect": [], "start_pos": 217, "end_pos": 217, "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114207", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F217", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2134984445", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984445" }, { "id": "rs2134984445", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984445" } ], "glycoeffect": [], "start_pos": 217, "end_pos": 217, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114207", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F217", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs949882263", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs949882263" }, { "id": "rs949882263", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs949882263#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 218, "end_pos": 218, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114211", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S218", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs949882263", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs949882263" }, { "id": "rs949882263", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs949882263#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 218, "end_pos": 218, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114211", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S218", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1954187933", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1954187933" }, { "id": "rs1954187933", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1954187933" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 219, "end_pos": 219, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114213", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T219", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs202208526", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202208526" }, { "id": "rs202208526", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs202208526" }, { "id": "rs202208526", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202208526" }, { "id": "rs202208526", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs202208526#frequency_tab" }, { "id": "rs202208526", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs202208526" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 219, "end_pos": 219, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114214", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T219", "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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": "rs1954187933", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1954187933" }, { "id": "rs1954187933", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1954187933" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 219, "end_pos": 219, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114213", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T219", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs202208526", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202208526" }, { "id": "rs202208526", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs202208526" }, { "id": "rs202208526", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202208526" }, { "id": "rs202208526", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs202208526#frequency_tab" }, { "id": "rs202208526", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs202208526" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 219, "end_pos": 219, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114214", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T219", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1954187933", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1954187933" }, { "id": "rs1954187933", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1954187933" } ], "glycoeffect": [], "start_pos": 219, "end_pos": 219, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114213", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T219", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2134965342", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134965342" }, { "id": "rs2134965342", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134965342" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 21, "end_pos": 21, "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44107773", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K21", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2134965342", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134965342" }, { "id": "rs2134965342", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134965342" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 21, "end_pos": 21, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44107773", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K21", "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" } ] }, { "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": "rs1366838906", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1366838906" }, { "id": "rs1366838906", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1366838906#frequency_tab" }, { "id": "rs1366838906", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1366838906" }, { "id": "rs2134984550", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984550" }, { "id": "rs2134984550", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984550" } ], "glycoeffect": [], "start_pos": 220, "end_pos": 220, "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114218", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W220", "keywords": [ "ebi", "germline", "disease" ], "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" } ] }, { "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" } ] } ] }, { "evidence": [ { "id": "Q93063", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063" }, { "id": "rs1366838906", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1366838906" }, { "id": "rs1366838906", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1366838906#frequency_tab" }, { "id": "rs1366838906", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1366838906" }, { "id": "rs1366838906", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1366838906" } ], "glycoeffect": [], "start_pos": 220, "end_pos": 220, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "C", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "44114218", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "W220", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs2539534340", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2539534340" } ], "glycoeffect": [], "start_pos": 220, "end_pos": 220, "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114216", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W220", "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": "rs2134984583", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984583" }, { "id": "rs2134984583", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984583" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 221, "end_pos": 221, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114219", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T221", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2134984596", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984596" }, { "id": "rs2134984596", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984596" }, { "id": "rs2134984583", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984583" }, { "id": "rs2134984583", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984583" } ], "glycoeffect": [], "start_pos": 221, "end_pos": 221, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114220", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T221", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs121918281", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121918281" }, { "id": "rs121918281", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121918281" }, { "id": "9326317", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9326317" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 222, "end_pos": 222, "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114224", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y222", "keywords": [ "ebi", "germline", "disease" ], "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" } ] }, { "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" } ] }, { "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" } ] } ] }, { "evidence": [ { "id": "rs752986576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752986576" }, { "id": "rs752986576", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752986576" }, { "id": "rs752986576", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752986576" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 222, "end_pos": 222, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114223", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y222", "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" } ] }, { "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" } ] }, { "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": "rs752986576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752986576" }, { "id": "rs752986576", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752986576" }, { "id": "rs752986576", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752986576" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 222, "end_pos": 222, "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114223", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y222", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752986576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752986576" }, { "id": "rs752986576", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752986576" }, { "id": "rs752986576", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752986576" } ], "glycoeffect": [], "start_pos": 222, "end_pos": 222, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114223", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y222", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201062014", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201062014" }, { "id": "rs201062014", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201062014" }, { "id": "rs201062014", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201062014" }, { "id": "rs201062014", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201062014#frequency_tab" }, { "id": "rs201062014", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201062014" } ], "glycoeffect": [], "start_pos": 223, "end_pos": 223, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114225", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "R223", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764379119", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764379119" }, { "id": "rs764379119", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764379119" }, { "id": "rs764379119", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764379119#frequency_tab" }, { "id": "rs764379119", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764379119" } ], "glycoeffect": [], "start_pos": 223, "end_pos": 223, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114226", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R223", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764379119", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764379119" }, { "id": "rs764379119", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764379119" }, { "id": "rs764379119", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764379119#frequency_tab" }, { "id": "rs764379119", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764379119" } ], "glycoeffect": [], "start_pos": 223, "end_pos": 223, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114226", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R223", "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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": "rs764379119", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764379119" }, { "id": "rs764379119", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764379119" }, { "id": "rs764379119", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764379119#frequency_tab" }, { "id": "rs764379119", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764379119" } ], "glycoeffect": [], "start_pos": 223, "end_pos": 223, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114226", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R223", "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" } ] }, { "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" } ] }, { "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" } ] }, { "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": "rs201062014", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201062014" }, { "id": "rs201062014", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201062014" }, { "id": "rs201062014", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201062014" }, { "id": "rs201062014", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201062014#frequency_tab" }, { "id": "rs201062014", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201062014" } ], "glycoeffect": [], "start_pos": 223, "end_pos": 223, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114225", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "R223", "keywords": [ "ebi", "germline", "disease" ], "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] } ] }, { "evidence": [ { "id": "rs1565199251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1565199251" }, { "id": "rs1565199251", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1565199251" } ], "glycoeffect": [], "start_pos": 224, "end_pos": 224, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114228", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q224", "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" } ] }, { "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": "rs1565199251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1565199251" }, { "id": "rs1565199251", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1565199251" } ], "glycoeffect": [], "start_pos": 224, "end_pos": 224, "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114228", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q224", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1954188664", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1954188664" }, { "id": "rs1954188664", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1954188664" } ], "glycoeffect": [], "start_pos": 224, "end_pos": 224, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114230", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q224", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1565199251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1565199251" }, { "id": "rs1565199251", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1565199251" } ], "glycoeffect": [], "start_pos": 224, "end_pos": 224, "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114228", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q224", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2134984709", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984709" }, { "id": "rs2134984709", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984709" } ], "glycoeffect": [], "start_pos": 224, "end_pos": 224, "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114229", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q224", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2134984750", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984750" }, { "id": "rs2134984750", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984750" } ], "glycoeffect": [], "start_pos": 225, "end_pos": 225, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114232", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G225", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2134984750", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984750" }, { "id": "rs2134984750", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984750" }, { "id": "rs2134984750", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2134984750" } ], "glycoeffect": [], "start_pos": 225, "end_pos": 225, "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114232", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G225", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs2134984742", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984742" }, { "id": "rs2134984742", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984742" } ], "glycoeffect": [], "start_pos": 225, "end_pos": 225, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114231", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G225", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2134984742", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984742" }, { "id": "rs2134984742", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984742" } ], "glycoeffect": [], "start_pos": 225, "end_pos": 225, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114231", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G225", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q93063", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063" }, { "id": "rs2134984750", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984750" }, { "id": "rs2134984750", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984750" } ], "glycoeffect": [], "start_pos": 225, "end_pos": 225, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "V", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "44114232", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G225", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. 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": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "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", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1406801697", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1406801697" }, { "id": "rs1406801697", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1406801697#frequency_tab" }, { "id": "rs1406801697", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1406801697" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 226, "end_pos": 226, "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114236", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y226", "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" } ] }, { "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" } ] }, { "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": "rs2134984788", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984788" }, { "id": "rs2134984788", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984788" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 226, "end_pos": 226, "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114235", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y226", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2134984779", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984779" }, { "id": "rs2134984779", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984779" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 226, "end_pos": 226, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114234", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y226", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2134984788", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984788" }, { "id": "rs2134984788", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984788" } ], "glycoeffect": [], "start_pos": 226, "end_pos": 226, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114235", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y226", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757680866", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757680866" }, { "id": "rs757680866", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757680866" }, { "id": "rs757680866", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757680866#frequency_tab" }, { "id": "rs757680866", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757680866" } ], "glycoeffect": [], "start_pos": 227, "end_pos": 227, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114239", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D227", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2134984829", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134984829" }, { "id": "rs2134984829", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2134984829" } ], "glycoeffect": [], "start_pos": 227, "end_pos": 227, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114238", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D227", "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" } ] }, { "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": "rs121918280", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121918280" }, { "id": "rs121918280", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121918280#frequency_tab" }, { "id": "rs121918280", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121918280" } ], "glycoeffect": [], "start_pos": 227, "end_pos": 227, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44114237", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D227", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q93063", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063" }, { "id": "rs121918280", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121918280" }, { "id": "rs121918280", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121918280#frequency_tab" }, { "id": "rs121918280", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121918280" }, { "id": "19344451", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19344451" }, { "id": "30288735", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30288735" }, { "id": "9326317", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9326317" }, { "id": "rs121918280", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121918280" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 227, "end_pos": 227, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DVS->NVS).", "chr_id": "11", "chr_pos": "44114237", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D227", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:5166", "DOID:4114", "DOID:2021", "DOID:9460" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ] } }