{"Name":"Autosomal dominant rhegmatogenous retinal detachment","DiseaseID__c":"GARD:0017104","id":17104,"encodedName":"autosomal-dominant-rhegmatogenous-retinal-detachment","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant rhegmatogenous retinal detachment","Xref_IDs__c":"773727009; C1836081; MEDGEN:322821; MONDO:0016202; ORPHA:209867","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016202","Disease_Description__c":"Autosomal dominant form of rhegmatogenous retinal detachment.","GARD_Name__c":"Autosomal dominant rhegmatogenous retinal detachment","GARD_Synonym__c":"drrd; rhegmatogenous retinal detachment, autosomal dominant","Curated_Disease_Description_Source__c":"ORPHA:209867","Curated_Disease_Description__c":"A rare, hereditary, non-syndromic form of vitreoretinopathy characterized by retinal tears due to abnormal vitreous, and commonly present refractive errors. No other signs or symptoms of Stickler syndrome is present.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:209867","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016202","ORPHANET_ID__c":"ORPHA:209867","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Desprendimiento de retina regmatógeno autosómico dominante","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"desprendimiento de retina regmatógeno autosómico dominante","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97966","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, hereditary, non-syndromic form of vitreoretinopathy characterized by retinal tears due to abnormal vitreous, and commonly present refractive errors. No other signs or symptoms of Stickler syndrome is present.","Curated_Disease_Description_Source__c":"ORPHA:209867","GARD_Synonym__c":"drrd; rhegmatogenous retinal detachment, autosomal dominant","Name":"Autosomal dominant rhegmatogenous retinal detachment","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:209867"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1836081","Source__c":"C1836081","Xref__c":"C1836081"},{"URL__c":"https://www.orpha.net/en/disease/detail/209867","Source__c":"C1836081; MONDO:0016202; ORPHA:209867","Xref__c":"ORPHA:209867"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=322821","Source__c":"C1836081","Xref__c":"MEDGEN:322821"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=773727009","Source__c":"C1836081","Xref__c":"773727009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016202","Source__c":"GARD:0017104","Xref__c":"MONDO:0016202"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"COL2A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col2a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal"],"Account":["Retinal"]},"synonyms":["drrd"," rhegmatogenous retinal detachment, autosomal dominant"]}