{"Name":"Spondyloepimetaphyseal dysplasia with joint laxity","DiseaseID__c":"GARD:0004982","id":4982,"encodedName":"spondyloepimetaphyseal-dysplasia-with-joint-laxity","IsDeleted":false,"Disease_Name_Full__c":"Spondyloepimetaphyseal dysplasia with joint laxity","Xref_IDs__c":"254100000; C0432243; C562968; DOID:0112197; MEDGEN:98148; MONDO:0019675; OMIMPS:271640","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":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0019675","Disease_Description__c":"A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment.","GARD_Name__c":"Spondyloepimetaphyseal dysplasia with joint laxity","GARD_Synonym__c":"semd-jl; semdjl","Curated_Disease_Description_Source__c":"MONDO:0019675","Curated_Disease_Description__c":"A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:93359","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019675","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":"A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment.","Curated_Disease_Description_Source__c":"MONDO:0019675","GARD_Synonym__c":"semd-jl; semdjl","Name":"Spondyloepimetaphyseal dysplasia with joint laxity","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Kniest SED Group","Website__c":"https://ksginfo.org/"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0432243"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004982","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562968","Source__c":"MONDO:0019675","Xref__c":"C562968"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112197","Source__c":"MONDO:0019675","Xref__c":"DOID:0112197"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98148","Source__c":"C0432243","Xref__c":"MEDGEN:98148"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254100000","Source__c":"MONDO:0019675","Xref__c":"254100000"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS271640","Source__c":"MONDO:0019675","Xref__c":"OMIMPS:271640"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0432243","Source__c":"C0432243","Xref__c":"C0432243"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019675","Source__c":"GARD:0004982","Xref__c":"MONDO:0019675"}],"tags":{},"synonyms":["semd-jl"," semdjl"]}