{"Name":"Autosomal recessive brachyolmia","DiseaseID__c":"GARD:0013171","id":13171,"encodedName":"autosomal-recessive-brachyolmia","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive brachyolmia","Xref_IDs__c":"783789002; C4760908; MEDGEN:1675807; MONDO:0018662; ORPHA:448242","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018662","Disease_Description__c":"Brachyolmia, recessive type is a form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.","GARD_Name__c":"Autosomal recessive brachyolmia","GARD_Synonym__c":"brachyolmia hobaek/toledo type; brachyolmia, autosomal recessive; brachyolmia, hobaek/toledo type","Curated_Disease_Description_Source__c":"ORPHA:448242","Curated_Disease_Description__c":"Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:448242","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018662","ORPHANET_ID__c":"ORPHA:448242","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Braquiolmia autosómica recesiva","Spanish_Description_Source__c":"ORPHA:448242","Spanish_Description__c":"Es una forma de braquiolmia, un grupo de trastornos esqueléticos poco frecuentes de origen genético caracterizados por talla baja de tronco corto acompañada de platispondilia y escoliosis. De forma excepcional, los afectados pueden presentar opacidades corneales y calcificación precoz del cartílago costal. En algunos casos, se observa pubertad precoz.","Spanish_Disease_Name__c":"braquiolmia autosómica recesiva","Spanish_GARD_Synonym__c":"braquiolmia tipo hobaek/toledo","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":"Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.","Curated_Disease_Description_Source__c":"ORPHA:448242","GARD_Synonym__c":"brachyolmia hobaek/toledo type; brachyolmia, autosomal recessive; brachyolmia, hobaek/toledo type","Name":"Autosomal recessive brachyolmia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:448242"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1675807","Source__c":"C4760908","Xref__c":"MEDGEN:1675807"},{"URL__c":"https://www.orpha.net/en/disease/detail/448242","Source__c":"C4760908; MONDO:0018662; ORPHA:448242","Xref__c":"ORPHA:448242"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4760908","Source__c":"C4760908","Xref__c":"C4760908"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783789002","Source__c":"C4760908","Xref__c":"783789002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018662","Source__c":"GARD:0013171","Xref__c":"MONDO:0018662"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PAPSS2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["brachyolmia hobaek/toledo type"," brachyolmia, autosomal recessive"," brachyolmia, hobaek/toledo type"]}