{"Name":"Postaxial polydactyly type B","DiseaseID__c":"GARD:0016818","id":16818,"encodedName":"postaxial-polydactyly-type-b","IsDeleted":false,"Disease_Name_Full__c":"Postaxial polydactyly type B","Xref_IDs__c":"715707008; C1868120; MEDGEN:357425; MONDO:0019674; ORPHA:93335","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:93335","Disease_Description__c":"A rare congenital limb malformation characterized by duplication of the fifth digit in a hand or foot, the sixth digit being rudimentary, poorly developed, and non-functional, frequently consisting of additional soft tissue on a pedicle. The anomaly can be unilateral or bilateral.","GARD_Name__c":"Postaxial polydactyly type B","GARD_Synonym__c":"papb","Curated_Disease_Description_Source__c":"ORPHA:93335","Curated_Disease_Description__c":"A rare congenital limb malformation characterized by duplication of the fifth digit in a hand or foot, the sixth digit being rudimentary, poorly developed, and non-functional, frequently consisting of additional soft tissue on a pedicle. The anomaly can be unilateral or bilateral.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy","SourceID__c":"ORPHA:93335","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019674","ORPHANET_ID__c":"ORPHA:93335","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Polidactilia postaxial tipo b","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"polidactilia postaxial tipo b","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, the sixth digit being rudimentary, poorly developed, and non-functional, frequently consisting of additional soft tissue on a pedicle. The anomaly can be unilateral or bilateral.","Curated_Disease_Description_Source__c":"ORPHA:93335","GARD_Synonym__c":"papb","Name":"Postaxial polydactyly type B","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:93335"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/93335","Source__c":"C1868120; MONDO:0019674; ORPHA:93335","Xref__c":"ORPHA:93335"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=357425","Source__c":"C1868120","Xref__c":"MEDGEN:357425"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715707008","Source__c":"C1868120; MONDO:0019674","Xref__c":"715707008"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1868120","Source__c":"C1868120","Xref__c":"C1868120"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019674","Source__c":"GARD:0016818","Xref__c":"MONDO:0019674"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GLI3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gli3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GLI1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["papb"]}