{"Name":"Spondyloepiphyseal dysplasia, MacDermot type","DiseaseID__c":"GARD:0016996","id":16996,"encodedName":"spondyloepiphyseal-dysplasia-macdermot-type","IsDeleted":false,"Disease_Name_Full__c":"Spondyloepiphyseal dysplasia, MacDermot type","Xref_IDs__c":"C1866719; C566659; MEDGEN:401067; MONDO:0008472; OMIM:184000; ORPHA:163668","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008472","Disease_Description__c":"Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.","GARD_Name__c":"Spondyloepiphyseal dysplasia, MacDermot type","GARD_Synonym__c":"spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome; spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome; spondyloepiphyseal dysplasia, myopia, and sensorineural deafness","Curated_Disease_Description_Source__c":"MONDO:0008472","Curated_Disease_Description__c":"Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:163668","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008472","ORPHANET_ID__c":"ORPHA:163668","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia espondiloepifisaria tipo macdermot","Spanish_Description_Source__c":"ORPHA:163668","Spanish_Description__c":"La displasia espondiloepifisaria (SED) tipo MacDermot está caracterizada por talla baja, displasia epifisaria femoral, cambios vertebrales leves y sordera neurosensorial.","Spanish_Disease_Name__c":"displasia espondiloepifisaria tipo macdermot","Spanish_GARD_Synonym__c":"síndrome de displasia espondiloepifisaria-miopía-hipoacusia neurosensorial; síndrome de displasia espondiloepifisaria-miopía-sordera neurosensorial","Category_Linearization__c":"ORPHA:93419","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), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.","Curated_Disease_Description_Source__c":"MONDO:0008472","GARD_Synonym__c":"spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome; spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome; spondyloepiphyseal dysplasia, myopia, and sensorineural deafness","Name":"Spondyloepiphyseal dysplasia, MacDermot type","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.org/"}],"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:163668"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:163668"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/184000","Source__c":"C1866719; MONDO:0008472; ORPHA:163668","Xref__c":"OMIM:184000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566659","Source__c":"MONDO:0008472","Xref__c":"C566659"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1866719","Source__c":"C1866719","Xref__c":"C1866719"},{"URL__c":"https://www.orpha.net/en/disease/detail/163668","Source__c":"C1866719; MONDO:0008472","Xref__c":"ORPHA:163668"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=401067","Source__c":"C1866719","Xref__c":"MEDGEN:401067"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008472","Source__c":"GARD:0016996","Xref__c":"MONDO:0008472"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Otolaryngology","Pediatrics"]},"synonyms":["spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome"," spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome"," spondyloepiphyseal dysplasia, myopia, and sensorineural deafness"]}