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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: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": "rs760860681", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760860681" } ], "glycoeffect": [], "start_pos": 1401, "end_pos": 1401, "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50185825", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1401", "disease": [ { "disease_id": "DOID:0110334", "recommended_name": { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type 1", "description": "An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "OI1", "description": "" }, { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "166200", "database": "MIM", "url": "https://www.omim.org/entry/166200" }, { "id": "0110334", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110334" } ] }, { "disease_id": "DOID:12347", "recommended_name": { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "osteogenesis imperfecta", "description": "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue." }, "synonyms": [ { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Lobstein's syndrome", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Osteopsathyrosis", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Vrolik's disease", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "brittle bone disease", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "12347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12347" } ] }, { "disease_id": "DOID:0110339", "recommended_name": { "id": "DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "osteogenesis imperfecta type 3", "description": "An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "progressively deforming osteogenesis imperfecta with normal sclera", "description": "" }, { "id": "DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "OI3", "description": "" }, { "id": "DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "osteogenesis imperfecta type III", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta type 3", "description": "Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI)." }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "OI type 3", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "OI3", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta type 3", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta type III", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "progressive deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "severe osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "OI type III", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta, progressively deforming with normal sclerae", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "progressively deforming OI", "description": "" }, { "id": "MIM:259420", "resource": "MIM", "url": "https://www.omim.org/entry/259420", "name": "Osteogenesis imperfecta 3", "description": "Osteogenesis imperfecta 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110339" } ] }, { "disease_id": "DOID:0110340", "recommended_name": { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta type 4", "description": "An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "OI4", "description": "" }, { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta type IV", "description": "" }, { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta with normal sclera", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "osteogenesis imperfecta type 4", "description": "Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI)." }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI type 4", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI4", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "osteogenesis imperfecta type IV", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI type IV", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "common variable OI with normal sclerae", "description": "" }, { "id": "MIM:166220", "resource": "MIM", "url": "https://www.omim.org/entry/166220", "name": "Osteogenesis imperfecta 4", "description": "Osteogenesis imperfecta 4" } ], "unlinked_id_list": [], "evidence": [ { "id": "166220", "database": "MIM", "url": "https://www.omim.org/entry/166220" }, { "id": "0110340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110340" }, { "id": "0110340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110340" } ] }, { "disease_id": "DOID:0110341", "recommended_name": { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "osteogenesis imperfecta type 2", "description": "An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "OI2", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "Vrolik type of osteogenesis imperfecta", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "osteogenesis imperfecta type II", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "perinatal lethal osteogenesis imperfecta congenita", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type 2", "description": "Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "OI type 2", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "OI2", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "Vrolik type of osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "lethal osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type 2", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type II", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "Perinatally lethal OI", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta congenita perinatal lethal form", "description": "" }, { "id": "MIM:166210", "resource": "MIM", "url": "https://www.omim.org/entry/166210", "name": "Osteogenesis imperfecta 2", "description": "Osteogenesis imperfecta 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110341" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1598284051", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1598284051" }, { "id": "rs1598284051", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1598284051#frequency_tab" }, { "id": "rs1598284051", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1598284051" } ], "glycoeffect": [], "start_pos": 1401, "end_pos": 1401, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50185823", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1401", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P02452", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P02452" }, { "id": "rs760860681", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760860681" }, { "id": "rs760860681", "database": "ExAC", "url": 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"https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "12347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12347" } ] }, { "disease_id": "DOID:0110340", "recommended_name": { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta type 4", "description": "An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on 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Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI)." }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI type 4", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI4", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "osteogenesis imperfecta type IV", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI type IV", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "common variable OI with normal sclerae", "description": "" }, { "id": "MIM:166220", "resource": "MIM", "url": "https://www.omim.org/entry/166220", "name": "Osteogenesis imperfecta 4", "description": "Osteogenesis imperfecta 4" } ], "unlinked_id_list": [], "evidence": [ { "id": "166220", "database": "MIM", "url": "https://www.omim.org/entry/166220" }, { "id": "0110340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110340" }, { "id": "0110340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110340" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2144531133", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144531133" }, { "id": "rs2144531133", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2144531133" } ], "glycoeffect": [], "start_pos": 1413, "end_pos": 1413, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50185788", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1413", "disease": [ { "disease_id": "DOID:0110341", "recommended_name": { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "osteogenesis imperfecta type 2", "description": "An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "OI2", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "Vrolik type of osteogenesis imperfecta", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "osteogenesis imperfecta type II", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "perinatal lethal osteogenesis imperfecta congenita", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type 2", "description": "Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. 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"MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type II", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "Perinatally lethal OI", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta congenita perinatal lethal form", "description": "" }, { "id": "MIM:166210", "resource": "MIM", "url": "https://www.omim.org/entry/166210", "name": "Osteogenesis imperfecta 2", "description": "Osteogenesis imperfecta 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110341" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P02452", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P02452" }, { "id": "rs72656349", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs72656349" }, { "id": "rs72656349", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs72656349" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1413, "end_pos": 1413, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DGC->NGC).", "chr_id": "17", "chr_pos": "50185789", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D1413", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://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", 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"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: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" } ] }, { "disease_id": "DOID:0110341", "recommended_name": { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "osteogenesis imperfecta type 2", "description": "An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "OI2", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "Vrolik type of osteogenesis imperfecta", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "osteogenesis imperfecta type II", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "perinatal lethal osteogenesis imperfecta congenita", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type 2", "description": "Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. 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"MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type II", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "Perinatally lethal OI", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta congenita perinatal lethal form", "description": "" }, { "id": "MIM:166210", "resource": "MIM", "url": "https://www.omim.org/entry/166210", "name": "Osteogenesis imperfecta 2", "description": "Osteogenesis imperfecta 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110341" } ] }, { "disease_id": "DOID:0110334", "recommended_name": { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type 1", "description": "An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "OI1", "description": "" }, { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": 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"https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. 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It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:0110334", "recommended_name": { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type 1", "description": "An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", 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"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: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: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": "rs1293345677", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1293345677" }, { "id": "rs1293345677", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1293345677#frequency_tab" } ], "glycoeffect": [], "start_pos": 1422, "end_pos": 1422, "sequence_org": "W", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50185632", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W1422", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1447771894", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1447771894" }, { "id": "rs1447771894", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1447771894" } ], "glycoeffect": [], "start_pos": 1423, "end_pos": 1423, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50185630", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1423", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1481762320", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1481762320" }, { "id": "rs1481762320", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1481762320#frequency_tab" }, { "id": "rs1481762320", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1481762320" } ], "glycoeffect": [], "start_pos": 1424, "end_pos": 1424, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50185627", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1424", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2144530252", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144530252" }, { "id": "rs2144530252", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2144530252" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1425, "end_pos": 1425, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50185623", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1425", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763025405", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763025405" }, { "id": "rs763025405", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763025405" }, { "id": "rs763025405", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763025405" } ], "glycoeffect": [], "start_pos": 1426, "end_pos": 1426, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50185621", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1426", "disease": [ { "disease_id": "DOID:0080727", "recommended_name": { "id": "DOID:0080727", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080727", "name": "Ehlers-Danlos syndrome arthrochalasia type 1", "description": "An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21." }, "synonyms": [ { "id": "MONDO:0020521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020521", "name": "Ehlers-Danlos syndrome type 7A", "description": "" }, { "id": "MONDO:0020521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020521", "name": "EDS VIIA", "description": "" }, { "id": "MIM:130060", "resource": "MIM", "url": "https://www.omim.org/entry/130060", "name": "Ehlers-Danlos syndrome, arthrochalasia type, 1", "description": "Ehlers-Danlos syndrome, arthrochalasia type, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "130060", "database": "MIM", "url": "https://www.omim.org/entry/130060" }, { "id": "0080727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080727" } ] }, { "disease_id": "DOID:4257", "recommended_name": { "id": "DOID:4257", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4257", "name": "Caffey disease", "description": "A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability." }, "synonyms": [ { "id": "DOID:4257", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4257", "name": "cortical congenital hyperostosis", "description": "" }, { "id": "DOID:4257", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4257", "name": "infantile cortical hyperostosis", "description": "" }, { "id": "MONDO:0007244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007244", "name": "Caffey disease", "description": "Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. 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Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": 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"MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "12347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12347" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs367952133", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367952133" }, { "id": "rs367952133", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367952133" }, { "id": "rs367952133", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367952133#frequency_tab" }, { "id": "rs367952133", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367952133" } ], "glycoeffect": [], "start_pos": 1447, "end_pos": 1447, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50185558", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1447", "disease": [ { "disease_id": "DOID:0080727", "recommended_name": { "id": "DOID:0080727", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080727", "name": "Ehlers-Danlos syndrome arthrochalasia type 1", "description": "An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21." }, "synonyms": [ { "id": "MONDO:0020521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020521", "name": "Ehlers-Danlos syndrome type 7A", "description": "" }, { "id": "MONDO:0020521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020521", "name": "EDS VIIA", "description": "" }, { "id": "MIM:130060", "resource": "MIM", "url": "https://www.omim.org/entry/130060", "name": "Ehlers-Danlos syndrome, arthrochalasia type, 1", "description": "Ehlers-Danlos syndrome, arthrochalasia type, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "130060", "database": "MIM", "url": "https://www.omim.org/entry/130060" }, { "id": "0080727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080727" } ] }, { "disease_id": "DOID:4257", "recommended_name": { "id": "DOID:4257", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4257", "name": "Caffey disease", "description": "A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability." }, "synonyms": [ { "id": "DOID:4257", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4257", "name": "cortical congenital hyperostosis", "description": "" }, { "id": "DOID:4257", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4257", "name": "infantile cortical hyperostosis", "description": "" }, { "id": "MONDO:0007244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007244", "name": "Caffey disease", "description": "Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described." }, { "id": "MONDO:0007244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007244", "name": "Caffey disease", "description": "" }, { "id": "MONDO:0007244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007244", "name": "infantile cortical hyperostosis", "description": "" }, { "id": "MIM:114000", "resource": "MIM", "url": "https://www.omim.org/entry/114000", "name": "Caffey disease", "description": "Caffey disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "114000", "database": "MIM", "url": "https://www.omim.org/entry/114000" }, { "id": "4257", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4257" } ] }, { "disease_id": "DOID:0110334", "recommended_name": { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type 1", "description": "An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "OI1", "description": "" }, { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "166200", "database": "MIM", "url": "https://www.omim.org/entry/166200" }, { "id": "0110334", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110334" } ] }, { "disease_id": "DOID:12347", "recommended_name": { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "osteogenesis imperfecta", "description": "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue." }, "synonyms": [ { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Lobstein's syndrome", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Osteopsathyrosis", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Vrolik's disease", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "brittle bone disease", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "12347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12347" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1567751388", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1567751388" } ], "glycoeffect": [], "start_pos": 1447, "end_pos": 1447, "sequence_org": "V", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50185558", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1447", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2144529623", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144529623" }, { "id": "rs2144529623", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2144529623" } ], "glycoeffect": [], "start_pos": 1448, "end_pos": 1448, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50185554", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1448", "disease": [ { "disease_id": "DOID:0110334", "recommended_name": { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type 1", "description": "An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on 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"osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "166200", "database": "MIM", "url": "https://www.omim.org/entry/166200" }, { "id": "0110334", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110334" } ] }, { "disease_id": "DOID:12347", "recommended_name": { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "osteogenesis imperfecta", "description": "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue." }, "synonyms": [ { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Lobstein's syndrome", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Osteopsathyrosis", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Vrolik's disease", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "brittle bone disease", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "12347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12347" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2509152842", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2509152842" } ], "glycoeffect": [], "start_pos": 1448, "end_pos": 1448, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50185555", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1448", "disease": [ { "disease_id": "DOID:0110340", "recommended_name": { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta type 4", "description": "An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "OI4", "description": "" }, { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta type IV", "description": "" }, { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta with normal sclera", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "osteogenesis imperfecta type 4", "description": "Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI)." }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI type 4", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI4", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "osteogenesis imperfecta type IV", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI type IV", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "common variable OI with normal sclerae", "description": "" }, { "id": "MIM:166220", "resource": "MIM", "url": "https://www.omim.org/entry/166220", "name": "Osteogenesis imperfecta 4", "description": "Osteogenesis imperfecta 4" } ], "unlinked_id_list": [], "evidence": [ { "id": "166220", "database": "MIM", "url": "https://www.omim.org/entry/166220" }, { "id": "0110340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110340" }, { "id": "0110340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110340" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1906422062", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1906422062" }, { "id": "rs1906422062", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1906422062#frequency_tab" } ], "glycoeffect": [], "start_pos": 1449, "end_pos": 1449, "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50185551", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1449", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs908422422", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs908422422" }, { "id": "rs908422422", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs908422422#frequency_tab" }, { "id": "rs908422422", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs908422422" } ], "glycoeffect": [], "start_pos": 144, "end_pos": 144, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50199267", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P144", "disease": [ { "disease_id": "DOID:0110334", "recommended_name": { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "166200", "database": "MIM", "url": "https://www.omim.org/entry/166200" }, { "id": "0110334", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110334" } ] }, { "disease_id": "DOID:12347", "recommended_name": { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "osteogenesis imperfecta", "description": "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue." }, "synonyms": [ { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Lobstein's syndrome", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Osteopsathyrosis", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Vrolik's disease", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "brittle bone disease", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "12347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12347" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1382053306", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1382053306" }, { "id": "rs1382053306", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1382053306" } ], "glycoeffect": [], "start_pos": 1451, "end_pos": 1451, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50185545", 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"glycoeffect": [], "start_pos": 1451, "end_pos": 1451, "sequence_org": "D", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50185545_50185549", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1451", "disease": [ { "disease_id": "DOID:0110339", "recommended_name": { "id": "DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "osteogenesis imperfecta type 3", "description": "An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "progressively deforming osteogenesis imperfecta with normal sclera", "description": "" }, { "id": "DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "OI3", "description": "" }, { "id": "DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "osteogenesis imperfecta type III", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta type 3", "description": "Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI)." }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "OI type 3", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "OI3", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta type 3", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta type III", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "progressive deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "severe osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "OI type III", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta, progressively deforming with normal sclerae", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "progressively deforming OI", "description": "" }, { "id": "MIM:259420", "resource": "MIM", "url": "https://www.omim.org/entry/259420", "name": "Osteogenesis imperfecta 3", "description": "Osteogenesis imperfecta 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110339" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs72656352", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs72656352" }, { "id": "2295701", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/2295701" } ], "glycoeffect": [], "start_pos": 1453, "end_pos": 1453, "sequence_org": "E", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50185535_50185539", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1453", "disease": [ { "disease_id": "DOID:0110334", "recommended_name": { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type 1", "description": "An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 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"https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "166200", "database": "MIM", "url": "https://www.omim.org/entry/166200" }, { "id": "0110334", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110334" } ] }, { "disease_id": "DOID:12347", "recommended_name": { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "osteogenesis imperfecta", "description": "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue." }, "synonyms": [ { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Lobstein's syndrome", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Osteopsathyrosis", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Vrolik's disease", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "brittle bone disease", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": 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"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": "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" } ] }, { "disease_id": "DOID:0080727", "recommended_name": { "id": "DOID:0080727", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080727", "name": "Ehlers-Danlos syndrome arthrochalasia type 1", "description": "An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21." }, "synonyms": [ { "id": "MONDO:0020521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020521", "name": "Ehlers-Danlos syndrome type 7A", "description": "" }, { "id": "MONDO:0020521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020521", "name": "EDS VIIA", "description": "" }, { "id": "MIM:130060", "resource": "MIM", "url": "https://www.omim.org/entry/130060", "name": "Ehlers-Danlos syndrome, arthrochalasia type, 1", "description": "Ehlers-Danlos syndrome, arthrochalasia type, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "130060", "database": "MIM", "url": "https://www.omim.org/entry/130060" }, { "id": "0080727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080727" } ] }, { "disease_id": "DOID:4257", "recommended_name": { "id": "DOID:4257", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4257", "name": "Caffey disease", "description": "A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability." }, "synonyms": [ { "id": "DOID:4257", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4257", "name": "cortical congenital hyperostosis", "description": "" }, { "id": "DOID:4257", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4257", "name": "infantile cortical hyperostosis", "description": "" }, { "id": "MONDO:0007244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007244", "name": "Caffey disease", "description": "Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described." }, { "id": "MONDO:0007244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007244", "name": "Caffey disease", "description": "" }, { "id": "MONDO:0007244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007244", "name": "infantile cortical hyperostosis", "description": "" }, { "id": "MIM:114000", "resource": "MIM", "url": "https://www.omim.org/entry/114000", "name": "Caffey disease", "description": "Caffey disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "114000", "database": "MIM", "url": "https://www.omim.org/entry/114000" }, { "id": "4257", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4257" } ] }, { "disease_id": "DOID:0110334", "recommended_name": { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type 1", "description": "An osteogenesis 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"https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "166200", "database": "MIM", "url": "https://www.omim.org/entry/166200" }, { "id": "0110334", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110334" } ] }, { "disease_id": "DOID:12347", "recommended_name": { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "osteogenesis imperfecta", "description": "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue." }, "synonyms": [ { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Lobstein's syndrome", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Osteopsathyrosis", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Vrolik's disease", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "brittle bone disease", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": 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"https://www.ncbi.nlm.nih.gov/snp/rs138557594#frequency_tab" }, { "id": "rs138557594", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs138557594" } ], "glycoeffect": [], "start_pos": 1458, "end_pos": 1458, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50185525", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "V1458", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767250343", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767250343" }, { "id": "rs767250343", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767250343" }, { "id": "rs767250343", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767250343#frequency_tab" }, { "id": "rs767250343", "database": "gnomAD", "url": 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"disease_id": "DOID:0110340", "recommended_name": { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta type 4", "description": "An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "OI4", "description": "" }, { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta type IV", "description": "" }, { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta with normal sclera", "description": "" }, { "id": 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Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI)." }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI type 4", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI4", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "osteogenesis imperfecta type IV", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI type IV", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "common variable OI with normal sclerae", "description": "" }, { "id": "MIM:166220", "resource": "MIM", "url": "https://www.omim.org/entry/166220", "name": "Osteogenesis imperfecta 4", "description": "Osteogenesis imperfecta 4" } ], "unlinked_id_list": [], "evidence": [ { "id": "166220", "database": "MIM", "url": "https://www.omim.org/entry/166220" }, { "id": "0110340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110340" }, { "id": "0110340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110340" } ] }, { "disease_id": "DOID:0110334", "recommended_name": { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type 1", "description": "An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "OI1", "description": "" }, { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "166200", "database": "MIM", "url": "https://www.omim.org/entry/166200" }, { "id": "0110334", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110334" } ] }, { "disease_id": "DOID:12347", "recommended_name": { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "osteogenesis imperfecta", "description": "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen 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"mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "12347", "database": "AGR", 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"description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1598283495", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1598283495" }, { "id": "rs1598283495", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1598283495" } ], "glycoeffect": [], "start_pos": 1461, "end_pos": 1461, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50185515", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1461", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P02452", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P02452" }, { "id": "rs1217455544", 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"site_lbl": "P149", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease 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"http://gnomad.broadinstitute.org/awesome?query=rs1198641344" } ], "glycoeffect": [], "start_pos": 149, "end_pos": 149, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50199251", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P149", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1252213458", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1252213458" }, { "id": "rs1252213458", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1252213458" } ], "glycoeffect": [], "start_pos": 149, "end_pos": 149, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50199252", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P149", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P02452", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P02452" } ], "glycoeffect": [], "start_pos": 14, "end_pos": 14, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "17", "chr_pos": "50201473", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A14", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2509253401", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2509253401" } ], "glycoeffect": [], "start_pos": 150, "end_pos": 150, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50199248", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P150", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs929436052", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs929436052" }, { "id": "rs929436052", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs929436052" } ], "glycoeffect": [], "start_pos": 151, "end_pos": 151, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50199245", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G151", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P02452", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P02452" }, { "id": "rs2509253387", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2509253387" } ], "glycoeffect": [], "start_pos": 151, "end_pos": 151, "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "17", "chr_pos": "50199246", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G151", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. 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"disease" ] }, { "evidence": [ { "id": "rs1114167407", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1114167407" }, { "id": "rs72667017", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs72667017" } ], "glycoeffect": [], "start_pos": 154, "end_pos": 154, "sequence_org": "G", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50199243", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G154", "disease": [ { "disease_id": "DOID:0110334", "recommended_name": { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type 1", "description": "An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 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"https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": 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"DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "OI3", "description": "" }, { "id": "DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "osteogenesis imperfecta type III", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta type 3", "description": "Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. 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Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI)." }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI type 4", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI4", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "osteogenesis imperfecta type IV", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI type IV", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "common variable OI with normal sclerae", "description": "" }, { "id": "MIM:166220", "resource": "MIM", "url": 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"sequence_mut": "R", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "17", "chr_pos": "50199231", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G156", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", 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