{"Name":"Omodysplasia","DiseaseID__c":"GARD:0016608","id":16608,"encodedName":"omodysplasia","IsDeleted":false,"Disease_Name_Full__c":"Omodysplasia","Xref_IDs__c":"725164008; C4510897; DOID:0060288; MEDGEN:1388973; MONDO:0017136; OMIMPS:258315; ORPHA:2733","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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017136","Disease_Description__c":"Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.","GARD_Name__c":"Omodysplasia","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0017136","Curated_Disease_Description__c":"Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.","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:2733","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017136","ORPHANET_ID__c":"ORPHA:2733","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Omodisplasia","Spanish_Description_Source__c":"ORPHA:2733","Spanish_Description__c":"La omodisplasia es una displasia esquelética rara caracterizada por dismorfia facial y acortamiento extremo de los miembros. Se han descrito dos tipos de omodisplasia: una forma autosómica recesiva o generalizada (también llamada displasia micromélica con luxación de radios) marcada por enanismo micromélico grave con acortamiento, normalmente rizomélico, de los miembros superiores e inferiores; y una forma autosómica dominante, en la que la altura es normal y el acortamiento se limita a los miembros superiores.","Spanish_Disease_Name__c":"omodisplasia","Spanish_GARD_Synonym__c":null,"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":"Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.","Curated_Disease_Description_Source__c":"MONDO:0017136","Name":"Omodysplasia","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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2733"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2733"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725164008","Source__c":"C4510897; MONDO:0017136","Xref__c":"725164008"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060288","Source__c":"MONDO:0017136","Xref__c":"DOID:0060288"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4510897","Source__c":"C4510897","Xref__c":"C4510897"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1388973","Source__c":"C4510897","Xref__c":"MEDGEN:1388973"},{"URL__c":"https://www.orpha.net/en/disease/detail/2733","Source__c":"C4510897; MONDO:0017136; ORPHA:2733","Xref__c":"ORPHA:2733"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS258315","Source__c":"MONDO:0017136","Xref__c":"OMIMPS:258315"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017136","Source__c":"GARD:0016608","Xref__c":"MONDO:0017136"}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":[""]}