{"Name":"Polydactyly of a triphalangeal thumb","DiseaseID__c":"GARD:0005289","id":5289,"encodedName":"polydactyly-of-a-triphalangeal-thumb","IsDeleted":false,"Disease_Name_Full__c":"Polydactyly of a triphalangeal thumb","Xref_IDs__c":"715710001; C1868114; DOID:0060986; MEDGEN:357423; MONDO:0008270; OMIM:174500; ORPHA:93336","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":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008270","Disease_Description__c":"Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms).","GARD_Name__c":"Polydactyly of a triphalangeal thumb","GARD_Synonym__c":"polydactyly of triphalangeal thumb; polydactyly, preaxial type 2; polydactyly, preaxial type ii; ppd2; preaxial polydactyly type 2; triphalangeal thumb-polydactyly syndrome; triphalangeal thumb, type i","Curated_Disease_Description_Source__c":"MONDO:0008270","Curated_Disease_Description__c":"Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:93336","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008270","ORPHANET_ID__c":"ORPHA:93336","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Polidactilia del pulgar trifalángico","Spanish_Description_Source__c":"ORPHA:93336","Spanish_Description__c":"La polidactilia de un pulgar trifalángico o PPD2 es una forma de polidactilia preaxial de los dedos de la mano, un síndrome de malformación de las extremidades caracterizado por la presencia de un pulgar trifalángico generalmente oponible con o sin duplicación adicional de uno o más componentes esqueléticos del pulgar. El aspecto del pulgar puede diferir mucho (en forma de cuña a rectangular) o puede estar desviado en el plano radiocubital (clinodactilia). PPD2 también se asocia con síndromes sistémicos, incluyendo el síndrome de Holt-Oram y la anemia de Fanconi.","Spanish_Disease_Name__c":"polidactilia del pulgar trifalángico","Spanish_GARD_Synonym__c":"polidactilia preaxial tipo 2; ppd2","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":"Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia.","Curated_Disease_Description_Source__c":"MONDO:0008270","GARD_Synonym__c":"polydactyly of triphalangeal thumb; polydactyly, preaxial type 2; polydactyly, preaxial type ii; ppd2; preaxial polydactyly type 2; triphalangeal thumb-polydactyly syndrome; triphalangeal thumb, type i","Name":"Polydactyly of a triphalangeal 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"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1868114"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005289","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1868114","Source__c":"C1868114","Xref__c":"C1868114"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=357423","Source__c":"C1868114","Xref__c":"MEDGEN:357423"},{"URL__c":"https://www.omim.org/entry/174500","Source__c":"C1868114; MONDO:0008270","Xref__c":"OMIM:174500"},{"URL__c":"https://www.orpha.net/en/disease/detail/93336","Source__c":"C1868114; MONDO:0008270; ORPHA:93336","Xref__c":"ORPHA:93336"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715710001","Source__c":"C1868114; MONDO:0008270","Xref__c":"715710001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008270","Source__c":"GARD:0005289","Xref__c":"MONDO:0008270"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060986","Source__c":"MONDO:0008270","Xref__c":"DOID:0060986"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LMBR1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SHH","GHR_URL__c":"https://medlineplus.gov/genetics/gene/shh","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:174500","Feature__r":{"HPO_Description__c":"Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009606","HPO_Synonym__c":"Complete duplication of outermost bone of the thumb","HPO_Name__c":"Complete duplication of distal phalanx of the thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174500","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Duplication of all or part of the first ray.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001841","HPO_Synonym__c":"Partial/complete duplication of the phalanges of the big toe; Polydactyly affecting the hallux; Preaxial hallucal polydactyly; Preaxial polydactyly of feet; Preaxial polydactyly of foot; Preaxial polydactyly of the feet; Preaxial polydactyly, feet","HPO_Name__c":"Preaxial foot polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174500","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001162","HPO_Synonym__c":"Extra little finger; Extra pinkie finger; Extra pinky finger; Polydactyly affecting the 5th finger; Postaxial polydactyly of fingers; Postaxial polydactyly of hand; Postaxial polydactyly of hands","HPO_Name__c":"Postaxial hand polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174500","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001830","HPO_Synonym__c":"Extra toe attached near the little toe; Polydactyly affecting the 5th toe; Postaxial polydactyly of feet; Postaxial polydactyly of foot; Posterior polydactyly of foot","HPO_Name__c":"Postaxial foot polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174500","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as \\\"bony\\\" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as \\\"symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001159","HPO_Synonym__c":"Webbed fingers or toes","HPO_Name__c":"Syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174500","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009942","HPO_Synonym__c":"Complete/partial duplication of phalanges of the thumb; Duplicated thumbs; Duplication of phalanx of thumb","HPO_Name__c":"Duplication of thumb phalanx","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174500","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A form of triphalangeal thumb that can be placed opposite the fingers of the same hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005866","HPO_Name__c":"Opposable triphalangeal thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174500","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"OMIM:174500","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Partial or complete duplication of one or more phalanx of big toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010066","HPO_Synonym__c":"Duplicated hallux; Duplication of big toe bone; Duplication of great toes; Duplication of phalanx of big toe; Hallucal duplication","HPO_Name__c":"Duplication of phalanx of hallux","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics"],"Account":["Congenital limb malformation"]},"synonyms":["polydactyly of triphalangeal thumb"," polydactyly, preaxial type 2"," polydactyly, preaxial type ii"," ppd2"," preaxial polydactyly type 2"," triphalangeal thumb-polydactyly syndrome"," triphalangeal thumb, type i"]}