{"Name":"Polydactyly of an index finger","DiseaseID__c":"GARD:0002256","id":2256,"encodedName":"polydactyly-of-an-index-finger","IsDeleted":false,"Disease_Name_Full__c":"Polydactyly of an index finger","Xref_IDs__c":"723446006; C1868113; C566784; MEDGEN:357422; MONDO:0008271; OMIM:174600; ORPHA:93337","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008271","Disease_Description__c":"Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962.","GARD_Name__c":"Polydactyly of an index finger","GARD_Synonym__c":"index finger polydactyly; polydactyly of index finger; polydactyly, preaxial iii; polydactyly, preaxial type 3; ppd3; ppd3- preaxial polydactyly type 3; preaxial polydactyly type 3","Curated_Disease_Description_Source__c":"MONDO:0008271","Curated_Disease_Description__c":"Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral. There have been no further descriptions in the literature since 1962.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:93337","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0008271","ORPHANET_ID__c":"ORPHA:93337","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Polidactilia del dedo índice","Spanish_Description_Source__c":"ORPHA:93337","Spanish_Description__c":"La polidactilia de un dedo índice o PPD3 es una forma de polidactilia preaxial de los dedos de la mano, un síndrome de malformación de las extremidades, en el que el pulgar es reemplazado por uno o dos dígitos trifalángicos con un patrón dermatoglífico específico del dedo índice. Se han caracterizado dos formas de PPD3: unilateral y bilateral. No ha habido más descripciones en la literatura desde 1962.","Spanish_Disease_Name__c":"polidactilia del dedo índice","Spanish_GARD_Synonym__c":"polidactilia preaxial tipo 3; ppd3","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 an index finger or PPD3 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral. There have been no further descriptions in the literature since 1962.","Curated_Disease_Description_Source__c":"MONDO:0008271","GARD_Synonym__c":"index finger polydactyly; polydactyly of index finger; polydactyly, preaxial iii; polydactyly, preaxial type 3; ppd3; ppd3- preaxial polydactyly type 3; preaxial polydactyly type 3","Name":"Polydactyly of an index finger","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Infancy","Provided_By__c":"ORPHA:93337"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:93337"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1868113","Source__c":"C1868113","Xref__c":"C1868113"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723446006","Source__c":"C1868113; MONDO:0008271","Xref__c":"723446006"},{"URL__c":"https://www.omim.org/entry/174600","Source__c":"C1868113; MONDO:0008271; ORPHA:93337","Xref__c":"OMIM:174600"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566784","Source__c":"MONDO:0008271","Xref__c":"C566784"},{"URL__c":"https://www.orpha.net/en/disease/detail/93337","Source__c":"C1868113; MONDO:0008271; ORPHA:93337","Xref__c":"ORPHA:93337"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=357422","Source__c":"C1868113","Xref__c":"MEDGEN:357422"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008271","Source__c":"GARD:0002256","Xref__c":"MONDO:0008271"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:174600","Feature__r":{"HPO_Description__c":"A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100258","HPO_Synonym__c":"Polydactyly, preaxial","HPO_Name__c":"Preaxial polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174600","Feature__r":{"HPO_Description__c":"A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001199","HPO_Synonym__c":"Accessory phalanx of the thumb; Digitalized thumb; Finger-like thumb; Triphalangeal thumbs; Triphalangy of thumb","HPO_Name__c":"Triphalangeal thumb","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":["index finger polydactyly"," polydactyly of index finger"," polydactyly, preaxial iii"," polydactyly, preaxial type 3"," ppd3"," ppd3- preaxial polydactyly type 3"," preaxial polydactyly type 3"]}