{"Name":"Postaxial polydactyly type A","DiseaseID__c":"GARD:0016817","id":16817,"encodedName":"postaxial-polydactyly-type-a","IsDeleted":false,"Disease_Name_Full__c":"Postaxial polydactyly type A","Xref_IDs__c":"715704001; C3887487; HP:0005696; MEDGEN:854350; MONDO:0019673; ORPHA:93334","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:93334","Disease_Description__c":"A rare congenital limb malformation characterized by duplication of the fifth digit in a hand or foot, with an extra, well-formed, functional digit at the metacarpophalangeal/metatarsophalangeal or carpometacarpal/tarsometatarsal joint. The malformation can be an isolated finding or be associated with a large number of other anomalies.","GARD_Name__c":"Postaxial polydactyly type A","GARD_Synonym__c":"nonsyndromic postaxial polydactyly type a; papa; postaxial polydactyly type a (disease)","Curated_Disease_Description_Source__c":"ORPHA:93334","Curated_Disease_Description__c":"A rare congenital limb malformation characterized by duplication of the fifth digit in a hand or foot, with an extra, well-formed, functional digit at the metacarpophalangeal/metatarsophalangeal or carpometacarpal/tarsometatarsal joint. The malformation can be an isolated finding or be associated with a large number of other anomalies.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy","SourceID__c":"ORPHA:93334","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019673","ORPHANET_ID__c":"ORPHA:93334","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Polidactilia postaxial tipo a","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"polidactilia postaxial tipo a","Spanish_GARD_Synonym__c":null,"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 congenital limb malformation characterized by duplication of the fifth digit in a hand or foot, with an extra, well-formed, functional digit at the metacarpophalangeal/metatarsophalangeal or carpometacarpal/tarsometatarsal joint. The malformation can be an isolated finding or be associated with a large number of other anomalies.","Curated_Disease_Description_Source__c":"ORPHA:93334","GARD_Synonym__c":"nonsyndromic postaxial polydactyly type a; papa; postaxial polydactyly type a (disease)","Name":"Postaxial polydactyly type A","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:93334"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=854350","Source__c":"C3887487","Xref__c":"MEDGEN:854350"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3887487","Source__c":"C3887487","Xref__c":"C3887487"},{"URL__c":"https://www.orpha.net/en/disease/detail/93334","Source__c":"C3887487; MONDO:0019673; ORPHA:93334","Xref__c":"ORPHA:93334"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715704001","Source__c":"C3887487; MONDO:0019673","Xref__c":"715704001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019673","Source__c":"GARD:0016817","Xref__c":"MONDO:0019673"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0005696","Source__c":"C3887487","Xref__c":"HP:0005696"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KIAA0825","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"IQCE","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GLI3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gli3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CIBAR1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GLI1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ZNF141","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["nonsyndromic postaxial polydactyly type a"," papa"," postaxial polydactyly type a (disease)"]}