{"Name":"Spondyloepiphyseal dysplasia","DiseaseID__c":"GARD:0007687","id":7687,"encodedName":"spondyloepiphyseal-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Spondyloepiphyseal dysplasia","Xref_IDs__c":"C0038015; DOID:0112280; HP:0002655; MEDGEN:20916; MONDO:0016761; ORPHA:253; Q77.7","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"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":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016761","Disease_Description__c":"An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis.","GARD_Name__c":"Spondyloepiphyseal dysplasia","GARD_Synonym__c":"sed; sed and semd; spondylo-epi-(meta)-physeal dysplasia; spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","Curated_Disease_Description_Source__c":"GARD:0007687","Curated_Disease_Description__c":"Spondyloepiphyseal dysplasia (SED) is a group of rare genetic conditions that affect bone growth in the spine, arms, and legs. Other features include problems with vision and hearing, clubfeet, cleft palate, arthritis, and difficulty with breathing as curvature of the spine progresses. There are two main types of SED, Spondyloepiphyseal dysplasia congenita (which is present from birth) and Spondyloepiphyseal dysplasia tarda (which develops later in childhood or adolescence). Spondyloepiphyseal dysplasia is caused by genetic changes in genes that are responsible for making proteins that are needed for the creation of bone and cartilage. Most cases are due to a new (de novo) genetic change, although it can be passed down through families.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:253","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016761","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia espondiloepifisaria y displasia espondiloepimetafisaria","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"displasia espondiloepifisaria y displasia espondiloepimetafisaria","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":"Spondyloepiphyseal dysplasia (SED) is a group of rare genetic conditions that affect bone growth in the spine, arms, and legs. Other features include problems with vision and hearing, clubfeet, cleft palate, arthritis, and difficulty with breathing as curvature of the spine progresses. There are two main types of SED, Spondyloepiphyseal dysplasia congenita (which is present from birth) and Spondyloepiphyseal dysplasia tarda (which develops later in childhood or adolescence). Spondyloepiphyseal dysplasia is caused by genetic changes in genes that are responsible for making proteins that are needed for the creation of bone and cartilage. Most cases are due to a new (de novo) genetic change, although it can be passed down through families.","Curated_Disease_Description_Source__c":"GARD:0007687","GARD_Synonym__c":"sed; sed and semd; spondylo-epi-(meta)-physeal dysplasia; spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","Name":"Spondyloepiphyseal dysplasia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.org/"},{"Account_Name__c":"European Reference Network on Bone Disorders","Website__c":"https://ernbond.eu/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:253"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0038015","Source__c":"C0038015","Xref__c":"C0038015"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=20916","Source__c":"C0038015","Xref__c":"MEDGEN:20916"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112280","Source__c":"MONDO:0016761","Xref__c":"DOID:0112280"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0002655","Source__c":"C0038015","Xref__c":"HP:0002655"},{"URL__c":"https://www.orpha.net/en/disease/detail/253","Source__c":"C0038015","Xref__c":"ORPHA:253"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016761","Source__c":"GARD:0007687","Xref__c":"MONDO:0016761"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q77.7","Source__c":"MONDO:0016761","Xref__c":"Q77.7"}],"tags":{"Specialist":["Pediatrics"]},"synonyms":["sed"," sed and semd"," spondylo-epi-(meta)-physeal dysplasia"," spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia"]}