{"Name":"Ischio-vertebral syndrome","DiseaseID__c":"GARD:0019052","id":19052,"encodedName":"ischio-vertebral-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Ischio-vertebral syndrome","Xref_IDs__c":"715654001; C4274732; MEDGEN:903166; MONDO:0019413","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0019413","Disease_Description__c":"Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism.","GARD_Name__c":"Ischio-vertebral syndrome","GARD_Synonym__c":"ischio-spinal dysostosis; ischio-vertebral dysplasia","Curated_Disease_Description_Source__c":"MONDO:0019413","Curated_Disease_Description__c":"Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:85200","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019413","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":"Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism.","Curated_Disease_Description_Source__c":"MONDO:0019413","GARD_Synonym__c":"ischio-spinal dysostosis; ischio-vertebral dysplasia","Name":"Ischio-vertebral syndrome","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715654001","Source__c":"MONDO:0019413","Xref__c":"715654001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=903166","Source__c":"C4274732","Xref__c":"MEDGEN:903166"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4274732","Source__c":"C4274732","Xref__c":"C4274732"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019413","Source__c":"GARD:0019052","Xref__c":"MONDO:0019413"}],"tags":{},"synonyms":["ischio-spinal dysostosis"," ischio-vertebral dysplasia"]}