{"Name":"Congenital absence of both forearm and hand","DiseaseID__c":"GARD:0021194","id":21194,"encodedName":"congenital-absence-of-both-forearm-and-hand","IsDeleted":false,"Disease_Name_Full__c":"Congenital absence of both forearm and hand","Xref_IDs__c":"C1306663; MEDGEN:727129; MONDO:0017443; ORPHA:294979; Q71.2","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":1,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0017443","Disease_Description__c":"Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end.","GARD_Name__c":"Congenital absence of both forearm and hand","GARD_Synonym__c":"congenital absence of forearm and hand; radio-ulnar terminal transverse meromelia","Curated_Disease_Description_Source__c":"MONDO:0017443","Curated_Disease_Description__c":"Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:294979","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017443","ORPHANET_ID__c":"ORPHA:294979","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ausencia aislada de antebrazo y mano","Spanish_Description_Source__c":"ORPHA:294979","Spanish_Description__c":"La ausencia congénita de antebrazo y mano, es un defecto congénito poco frecuente del desarrollo embrionario, caracterizado por la detención, uni- o bilateral, del desarrollo proximal o distal de las extremidades superiores. El resultado es un defecto transversal tipo amputación, con ausencia del antebrazo, muñeca y mano. Con cierta frecuencia, se observa una amputación por debajo del codo, estando por lo general la parte distal bien recubierta de tejido blando, con nudillos o nódulos rudimentarios en el extremo de la misma.","Spanish_Disease_Name__c":"ausencia aislada de antebrazo y mano","Spanish_GARD_Synonym__c":"meromelia terminal transversa congénita aislada de radio-cúbito","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":"Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end.","Curated_Disease_Description_Source__c":"MONDO:0017443","GARD_Synonym__c":"congenital absence of forearm and hand; radio-ulnar terminal transverse meromelia","Name":"Congenital absence of both forearm and 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://uts.nlm.nih.gov/uts/umls/concept/C1306663","Source__c":"C1306663","Xref__c":"C1306663"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q71.2","Source__c":"MONDO:0017443","Xref__c":"Q71.2"},{"URL__c":"https://www.orpha.net/en/disease/detail/294979","Source__c":"C1306663; MONDO:0017443","Xref__c":"ORPHA:294979"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=727129","Source__c":"C1306663","Xref__c":"MEDGEN:727129"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017443","Source__c":"GARD:0021194","Xref__c":"MONDO:0017443"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=737217005","Source__c":"C1306663","Xref__c":"737217005"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics"],"Account":["Congenital limb malformation"]},"synonyms":["congenital absence of forearm and hand"," radio-ulnar terminal transverse meromelia"]}