{"Name":"Amelia of upper limb","DiseaseID__c":"GARD:0021190","id":21190,"encodedName":"amelia-of-upper-limb","IsDeleted":false,"Disease_Name_Full__c":"Amelia of upper limb","Xref_IDs__c":"205306000; C0265570; MEDGEN:539335; MONDO:0017437; ORPHA:294967","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0017437","Disease_Description__c":"A non-syndromic amelia that involves the forelimb.","GARD_Name__c":"Amelia of upper limb","GARD_Synonym__c":"congenital absence of upper limb; congenital complete absence of upper limb; forelimb non-syndromic amelia; non-syndromic amelia of forelimb; transverse deficiency of arm, shoulder level","Curated_Disease_Description_Source__c":"ORPHA:294967","Curated_Disease_Description__c":"A rare, non-syndromic limb reduction defect characterized by complete or near-complete congenital absence of one (unilateral) or both (bilateral) of the upper extremities, occurring due to an intrauterine insult during the very early stages of embryonic development. It may be an isolated anomaly, but is more commonly observed in combination with multiple other congenital malformations.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:294967","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017437","ORPHANET_ID__c":"ORPHA:294967","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Amelia aislada de las extremidades superiores","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"amelia aislada de las extremidades superiores","Spanish_GARD_Synonym__c":"ausencia congénita aislada de las extremidades superiores","Category_Linearization__c":"ORPHA:93890","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 rare, non-syndromic limb reduction defect characterized by complete or near-complete congenital absence of one (unilateral) or both (bilateral) of the upper extremities, occurring due to an intrauterine insult during the very early stages of embryonic development. It may be an isolated anomaly, but is more commonly observed in combination with multiple other congenital malformations.","Curated_Disease_Description_Source__c":"ORPHA:294967","GARD_Synonym__c":"congenital absence of upper limb; congenital complete absence of upper limb; forelimb non-syndromic amelia; non-syndromic amelia of forelimb; transverse deficiency of arm, shoulder level","Name":"Amelia of upper limb","estimateUsa":""}],"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":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=539335","Source__c":"C0265570","Xref__c":"MEDGEN:539335"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265570","Source__c":"C0265570","Xref__c":"C0265570"},{"URL__c":"https://www.orpha.net/en/disease/detail/294967","Source__c":"C0265570; MONDO:0017437","Xref__c":"ORPHA:294967"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=205306000","Source__c":"C0265570; MONDO:0017437","Xref__c":"205306000"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=360526007","Source__c":"C0265570","Xref__c":"360526007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017437","Source__c":"GARD:0021190","Xref__c":"MONDO:0017437"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics"],"Account":["Congenital limb malformation"]},"synonyms":["congenital absence of upper limb"," congenital complete absence of upper limb"," forelimb non-syndromic amelia"," non-syndromic amelia of forelimb"," transverse deficiency of arm, shoulder level"]}