{"Name":"Hyperphalangy","DiseaseID__c":"GARD:0021199","id":21199,"encodedName":"hyperphalangy","IsDeleted":false,"Disease_Name_Full__c":"Hyperphalangy","Xref_IDs__c":"763535005; C4706507; MEDGEN:1639275; MONDO:0017455; ORPHA:295002","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":"MONDO:0017455","Disease_Description__c":"Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies.","GARD_Name__c":"Hyperphalangy","GARD_Synonym__c":"supernumerary phalanges; supernumerary phalanx","Curated_Disease_Description_Source__c":"MONDO:0017455","Curated_Disease_Description__c":"Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:295002","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017455","ORPHANET_ID__c":"ORPHA:295002","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperfalangia aislada","Spanish_Description_Source__c":"ORPHA:295002","Spanish_Description__c":"La hiperfalangia es una malformación congénita de las extremidades, caracterizada por la presencia de una falange accesoria, entre el metacarpo/metatarso y la falange proximal, o entre cualquiera de las otras dos falanges de un dedo, excluyendo el pulgar. La hiperfalangia es casi siempre bilateral, y los afectados no presentan polidactilia (dedo extra) ni ninguna otra anomalía esquelética.","Spanish_Disease_Name__c":"hiperfalangia aislada","Spanish_GARD_Synonym__c":"falange supernumeraria; falanges supernumerarias congénitas aisladas","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":"Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies.","Curated_Disease_Description_Source__c":"MONDO:0017455","GARD_Synonym__c":"supernumerary phalanges; supernumerary phalanx","Name":"Hyperphalangy","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://browser.ihtsdotools.org/?perspective=full&conceptId1=763535005","Source__c":"C4706507; MONDO:0017455","Xref__c":"763535005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4706507","Source__c":"C4706507","Xref__c":"C4706507"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1639275","Source__c":"C4706507","Xref__c":"MEDGEN:1639275"},{"URL__c":"https://www.orpha.net/en/disease/detail/295002","Source__c":"C4706507; MONDO:0017455; ORPHA:295002","Xref__c":"ORPHA:295002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017455","Source__c":"GARD:0021199","Xref__c":"MONDO:0017455"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics"],"Account":["Congenital limb malformation"]},"synonyms":["supernumerary phalanges"," supernumerary phalanx"]}