{"Name":"Polydactyly of a biphalangeal thumb","DiseaseID__c":"GARD:0004417","id":4417,"encodedName":"polydactyly-of-a-biphalangeal-thumb","IsDeleted":false,"Disease_Name_Full__c":"Polydactyly of a biphalangeal thumb","Xref_IDs__c":"445216006; C1395852; C536332; DOID:0060987; MEDGEN:237235; MONDO:0008269; OMIM:174400; ORPHA:93339","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008269","Disease_Description__c":"A rare non-syndromic limb malformation characterized by the duplication of one or more skeletal components of a biphalangeal thumb and/or hallux. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left. Hallux duplication may present concomitantly to, or independently of thumb polydactyly and is predominantly unilateral right.","GARD_Name__c":"Polydactyly of a biphalangeal thumb","GARD_Synonym__c":"extra thumb; fromont anomaly; polydactyly affecting the thumb; polydactyly, preaxial i; polydactyly, preaxial type 1; ppd1; preaxial hand polydactyly; preaxial polydactyly of hands; preaxial polydactyly type 1; supernumerary thumb; thumb polydactyly","Curated_Disease_Description_Source__c":"MONDO:0008269","Curated_Disease_Description__c":"A rare non-syndromic limb malformation characterized by the duplication of one or more skeletal components of a biphalangeal thumb and/or hallux. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left. Hallux duplication may present concomitantly to, or independently of thumb polydactyly and is predominantly unilateral right.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:93339","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008269","ORPHANET_ID__c":"ORPHA:93339","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Polidactilia de pulgar bifalángico y/o hallux","Spanish_Description_Source__c":"ORPHA:93339","Spanish_Description__c":"Es una malformación poco frecuente no sindrómica de las extremidades caracterizada por la duplicación de uno o más componentes esqueléticos de un pulgar bifalángico y/o hallux. Afecta preferentemente a las manos (de forma bilateral), y con mayor frecuencia a la mano derecha que a la izquierda. La duplicación del hallux puede presentarse concomitantemente o independientemente de la polidactilia del pulgar y es predominantemente unilateral derecha.","Spanish_Disease_Name__c":"polidactilia de pulgar bifalángico y/o hallux","Spanish_GARD_Synonym__c":"polidactilia preaxial tipo 1; ppd1","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 limb malformation characterized by the duplication of one or more skeletal components of a biphalangeal thumb and/or hallux. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left. Hallux duplication may present concomitantly to, or independently of thumb polydactyly and is predominantly unilateral right.","Curated_Disease_Description_Source__c":"MONDO:0008269","GARD_Synonym__c":"extra thumb; fromont anomaly; polydactyly affecting the thumb; polydactyly, preaxial i; polydactyly, preaxial type 1; ppd1; preaxial hand polydactyly; preaxial polydactyly of hands; preaxial polydactyly type 1; supernumerary thumb; thumb polydactyly","Name":"Polydactyly of a biphalangeal thumb","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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:93339"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:93339"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004417","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/174400","Source__c":"C1395852; MONDO:0008269; ORPHA:93339","Xref__c":"OMIM:174400"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1395852","Source__c":"C1395852","Xref__c":"C1395852"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=237235","Source__c":"C1395852","Xref__c":"MEDGEN:237235"},{"URL__c":"https://www.orpha.net/en/disease/detail/93339","Source__c":"C1395852; MONDO:0008269; ORPHA:93339","Xref__c":"ORPHA:93339"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536332","Source__c":"MONDO:0008269","Xref__c":"C536332"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=445216006","Source__c":"MONDO:0008269","Xref__c":"445216006"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001177","Source__c":"C1395852","Xref__c":"HP:0001177"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008269","Source__c":"GARD:0004417","Xref__c":"MONDO:0008269"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060987","Source__c":"MONDO:0008269","Xref__c":"DOID:0060987"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GLI1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:174400","Feature__r":{"HPO_Description__c":"A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009944","HPO_Synonym__c":"Bifid thumb; Notching of thumb phalanges; Partial duplication of the phalanges of the thumb; Partial duplication of the thumb bones","HPO_Name__c":"Partial duplication of thumb phalanx","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174400","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005895","HPO_Name__c":"Radial deviation of thumb terminal phalanx","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174400","Feature__r":{"HPO_Description__c":"Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001177","HPO_Synonym__c":"Extra thumb; Polydactyly affecting the thumb; Preaxial polydactyly of hands; Supernumerary thumb; thumb polydactyly","HPO_Name__c":"Preaxial hand polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["extra thumb"," fromont anomaly"," polydactyly affecting the thumb"," polydactyly, preaxial i"," polydactyly, preaxial type 1"," ppd1"," preaxial hand polydactyly"," preaxial polydactyly of hands"," preaxial polydactyly type 1"," supernumerary thumb"," thumb polydactyly"]}