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EDS has five cardinal signs, which may be present to some degree in all of the subtypes. 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"https://monarchinitiative.org/disease/MONDO:0019567", "name": "EDSCL1", "description": "" }, { "id": "MONDO:0019567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019567", "name": "Ehlers-Danlos syndrome, classic type, 1", "description": "" }, { "id": "MONDO:0019567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019567", "name": "Ehlers-Danlos syndrome, type I", "description": "" }, { "id": "MIM:130000", "resource": "MIM", "url": "https://www.omim.org/entry/130000", "name": "Ehlers-Danlos syndrome, classic type, 1", "description": "Ehlers-Danlos syndrome, classic type, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "13359", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13359" } ] }, { "disease_id": "DOID:14720", "recommended_name": { "id": "DOID:14720", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14720", "name": "Ehlers-Danlos syndrome classic type 1", "description": "An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34." }, "synonyms": [ { "id": "DOID:14720", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14720", "name": "Ehlers-Danlos syndrome, type 1", "description": "" }, { "id": "DOID:14720", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14720", "name": "type I Ehlers-Danlos syndrome", "description": "" }, { "id": "MONDO:0019567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019567", "name": "Ehlers-Danlos syndrome, classic type, 1", "description": "Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene." }, { "id": "MONDO:0019567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019567", "name": "EDS I", "description": "" }, { "id": "MONDO:0019567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019567", "name": "EDSCL1", "description": "" }, { "id": "MONDO:0019567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019567", "name": "Ehlers-Danlos syndrome, classic type, 1", "description": "" }, { "id": "MONDO:0019567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019567", "name": "Ehlers-Danlos syndrome, type I", "description": "" }, { "id": "MIM:130000", "resource": "MIM", "url": "https://www.omim.org/entry/130000", "name": "Ehlers-Danlos syndrome, classic type, 1", "description": "Ehlers-Danlos syndrome, classic type, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "14720", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14720" }, { "id": "14720", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14720" } ] }, { "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": "rs769601541", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769601541" }, { "id": "rs769601541", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769601541" }, { "id": "rs769601541", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769601541#frequency_tab" }, { "id": "rs769601541", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769601541" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50189432", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P925", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P02452", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P02452" }, { "id": "rs772929903", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772929903" }, { "id": "rs772929903", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772929903" }, { "id": "rs772929903", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772929903#frequency_tab" }, { "id": "rs772929903", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772929903" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, collagen).", "chr_id": "17", "chr_pos": "50189433", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P925", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "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": [ { 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"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 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] }, { "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. 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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": 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