{"Name":"Ehlers-Danlos/osteogenesis imperfecta syndrome","DiseaseID__c":"GARD:0017156","id":17156,"encodedName":"ehlers-danlososteogenesis-imperfecta-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Ehlers-Danlos/osteogenesis imperfecta syndrome","Xref_IDs__c":"C4518787; C565178; MEDGEN:1386497; MONDO:0016470; OMIMPS:619115; ORPHA:230857","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016470","Disease_Description__c":"A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.","GARD_Name__c":"Ehlers-Danlos/osteogenesis imperfecta syndrome","GARD_Synonym__c":"eds/oi syndrome; ehlers-danlos and osteogenesis imperfecta syndrome","Curated_Disease_Description_Source__c":"MONDO:0016470","Curated_Disease_Description__c":"A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:230857","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016470","ORPHANET_ID__c":"ORPHA:230857","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de ehlers-danlos/osteogénesis imperfecta","Spanish_Description_Source__c":"ORPHA:230857","Spanish_Description__c":"Es una enfermedad sistémica poco frecuente caracterizada por la asociación de rasgos del síndrome de Ehlers-Danlos y de la osteogénesis imperfecta. Las manifestaciones clínicas predominantes incluyen hipermovilidad articular generalizada y luxaciones, hiperextensibilidad y/o translucidez de la piel y propensión a hematomas, asociadas de forma variable a signos leves de osteogénesis imperfecta, que incluyen talla baja, escleróticas azules y osteopenia o fracturas.","Spanish_Disease_Name__c":"síndrome de ehlers-danlos/osteogénesis imperfecta","Spanish_GARD_Synonym__c":"síndrome sed/oi","Category_Linearization__c":"ORPHA:98023","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.","Curated_Disease_Description_Source__c":"MONDO:0016470","GARD_Synonym__c":"eds/oi syndrome; ehlers-danlos and osteogenesis imperfecta syndrome","Name":"Ehlers-Danlos/osteogenesis imperfecta syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Ehlers-Danlos Society","Website__c":"https://www.ehlers-danlos.com/"},{"Account_Name__c":"Osteogenesis Imperfecta Foundation","Website__c":"https://oif.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:230857"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:230857"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565178","Source__c":"MONDO:0016470","Xref__c":"C565178"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1386497","Source__c":"C4518787","Xref__c":"MEDGEN:1386497"},{"URL__c":"https://www.orpha.net/en/disease/detail/230857","Source__c":"C4518787; MONDO:0016470; ORPHA:230857","Xref__c":"ORPHA:230857"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4518787","Source__c":"C4518787","Xref__c":"C4518787"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS619115","Source__c":"MONDO:0016470","Xref__c":"OMIMPS:619115"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016470","Source__c":"GARD:0017156","Xref__c":"MONDO:0016470"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=733457006","Source__c":"C4518787","Xref__c":"733457006"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"COL1A2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col1a2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"COL1A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col1a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Rheumatology","Dermatology","Orthopedics","Pediatrics"],"Account":["Dermatology"]},"synonyms":["eds/oi syndrome"," ehlers-danlos and osteogenesis imperfecta syndrome"]}