{"Name":"Absent hand","DiseaseID__c":"GARD:0021196","id":21196,"encodedName":"absent-hand","IsDeleted":false,"Disease_Name_Full__c":"Absent hand","Xref_IDs__c":"371199008; C0265594; HP:0004050; MEDGEN:488815; MONDO:0017445; ORPHA:294983","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":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:294983","Disease_Description__c":"A rare non-syndromic limb reduction defect characterized by the congenital total absence of the hand and wrist with no bony elements distal to the radius or ulna. The malformation can be unilateral or bilateral.","GARD_Name__c":"Absent hand","GARD_Synonym__c":"acheiria; agenesis of hand; congenital absence of hand","Curated_Disease_Description_Source__c":"ORPHA:294983","Curated_Disease_Description__c":"A rare non-syndromic limb reduction defect characterized by the congenital total absence of the hand and wrist with no bony elements distal to the radius or ulna. The malformation can be unilateral or bilateral.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:294983","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017445","ORPHANET_ID__c":"ORPHA:294983","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Aquiria aislada","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"aquiria aislada","Spanish_GARD_Synonym__c":"ausencia congénita aislada de la mano","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 the congenital total absence of the hand and wrist with no bony elements distal to the radius or ulna. The malformation can be unilateral or bilateral.","Curated_Disease_Description_Source__c":"ORPHA:294983","GARD_Synonym__c":"acheiria; agenesis of hand; congenital absence of hand","Name":"Absent hand","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=488815","Source__c":"C0265594","Xref__c":"MEDGEN:488815"},{"URL__c":"https://www.orpha.net/en/disease/detail/294983","Source__c":"C0265594; MONDO:0017445","Xref__c":"ORPHA:294983"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=371199008","Source__c":"C0265594; MONDO:0017445","Xref__c":"371199008"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265594","Source__c":"C0265594","Xref__c":"C0265594"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0004050","Source__c":"C0265594","Xref__c":"HP:0004050"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017445","Source__c":"GARD:0021196","Xref__c":"MONDO:0017445"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1003510009","Source__c":"C0265594","Xref__c":"1003510009"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics"],"Account":["Congenital limb malformation"]},"synonyms":["acheiria"," agenesis of hand"," congenital absence of hand"]}