{"Name":"Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome","DiseaseID__c":"GARD:0018776","id":18776,"encodedName":"osteochondrodysplatic-nanism-deafness-retinitis-pigmentosa-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome","Xref_IDs__c":"722108000; CN276413; MEDGEN:959441; MONDO:0017041","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":0,"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":2,"Disease_Characteristics_Score__c":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0017041","Disease_Description__c":"Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance.","GARD_Name__c":"Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome","GARD_Synonym__c":"osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome","Curated_Disease_Description_Source__c":"ORPHA:2653","Curated_Disease_Description__c":"Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. Transmission is autosomal dominant variable penetrance.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:2653","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017041","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. Transmission is autosomal dominant variable penetrance.","Curated_Disease_Description_Source__c":"ORPHA:2653","GARD_Synonym__c":"osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome","Name":"Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722108000","Source__c":"MONDO:0017041","Xref__c":"722108000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017041","Source__c":"GARD:0018776","Xref__c":"MONDO:0017041"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN276413","Source__c":"CN276413","Xref__c":"CN276413"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=959441","Source__c":"CN276413","Xref__c":"MEDGEN:959441"}],"tags":{},"synonyms":["osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome"]}