{"Name":"Syndactyly type 6","DiseaseID__c":"GARD:0021201","id":21201,"encodedName":"syndactyly-type-6","IsDeleted":false,"Disease_Name_Full__c":"Syndactyly type 6","Xref_IDs__c":"763624007; C4706525; MEDGEN:1635950; MONDO:0017460; ORPHA:295012","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:0017460","Disease_Description__c":"A rare non-syndromic syndactyly characterized by unilateral fusion of 2nd to 5th fingers, amalgamation of distal phalanges in a knot-like structure, and fusion of the 2nd and 3rd toe. Some individuals present only with webbing between the 2nd and 3rd toes, without involvement of fingers.","GARD_Name__c":"Syndactyly type 6","GARD_Synonym__c":"mitten hand; syndactyly mitten type; syndactyly, mitten type; unilateral syndactyly of digits 2-5","Curated_Disease_Description_Source__c":"MONDO:0017460","Curated_Disease_Description__c":"A rare non-syndromic syndactyly characterized by unilateral fusion of 2nd to 5th fingers, amalgamation of distal phalanges in a knot-like structure, and fusion of the 2nd and 3rd toe. Some individuals present only with webbing between the 2nd and 3rd toes, without involvement of fingers.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:295012","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017460","ORPHANET_ID__c":"ORPHA:295012","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Sindactilia tipo 6","Spanish_Description_Source__c":"ORPHA:295012","Spanish_Description__c":"Es una sindactilia no sindrómica poco frecuente caracterizada por la fusión unilateral del segundo al quinto dedos de la mano, fusión de las falanges distales en una estructura con forma de nudo y la fusión del segundo y tercer dedos del pie. Algunos individuos unicamente presentan membranas entre el segundo y tercer dedos del pie, sin afectación de la mano.","Spanish_Disease_Name__c":"sindactilia tipo 6","Spanish_GARD_Synonym__c":"mano en manopla; mano en mitón; sindactilia tipo manopla; sindactilia tipo mitón; sindactilia unilateral de los dedos 2-5","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 syndactyly characterized by unilateral fusion of 2nd to 5th fingers, amalgamation of distal phalanges in a knot-like structure, and fusion of the 2nd and 3rd toe. Some individuals present only with webbing between the 2nd and 3rd toes, without involvement of fingers.","Curated_Disease_Description_Source__c":"MONDO:0017460","GARD_Synonym__c":"mitten hand; syndactyly mitten type; syndactyly, mitten type; unilateral syndactyly of digits 2-5","Name":"Syndactyly type 6","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/C4706525","Source__c":"C4706525","Xref__c":"C4706525"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763624007","Source__c":"C4706525; MONDO:0017460","Xref__c":"763624007"},{"URL__c":"https://www.orpha.net/en/disease/detail/295012","Source__c":"C4706525; MONDO:0017460; ORPHA:295012","Xref__c":"ORPHA:295012"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1635950","Source__c":"C4706525","Xref__c":"MEDGEN:1635950"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017460","Source__c":"GARD:0021201","Xref__c":"MONDO:0017460"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics"],"Account":["Congenital limb malformation"]},"synonyms":["mitten hand"," syndactyly mitten type"," syndactyly, mitten type"," unilateral syndactyly of digits 2-5"]}