{"Name":"Polysyndactyly 4","DiseaseID__c":"GARD:0009903","id":9903,"encodedName":"polysyndactyly-4","IsDeleted":false,"Disease_Name_Full__c":"Polysyndactyly 4","Xref_IDs__c":"C1868111; DOID:0060985; MEDGEN:357420; MONDO:0008272; OMIM:174700; ORPHA:93338","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:0008272","Disease_Description__c":"Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.","GARD_Name__c":"Polysyndactyly 4","GARD_Synonym__c":"polydactyly, preaxial type 4; polydactyly, preaxial, type iv; polysyndactyly uncomplicated; ppd4; preaxial polydactyly 4; preaxial polydactyly type 4; preaxial polydactyly type iv","Curated_Disease_Description_Source__c":"MONDO:0008272","Curated_Disease_Description__c":"Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.","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:93338","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008272","ORPHANET_ID__c":"ORPHA:93338","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Polisindactilia","Spanish_Description_Source__c":"ORPHA:93338","Spanish_Description__c":"La polisindactilia o PPD4 es una forma de polidactilia preaxial de los dedos, un síndrome de malformación de las extremidades, caracterizado por la presencia de un pulgar que muestra el grado más leve de duplicación, siendo ancho, bífido o con la falange distal desviada radialmente. Ocasionalmente se presenta sindactilia de varios grados de los dedos tercero y cuarto de la mano.","Spanish_Disease_Name__c":"polisindactilia","Spanish_GARD_Synonym__c":"polidactilia preaxial tipo 4; ppd4","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":"Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.","Curated_Disease_Description_Source__c":"MONDO:0008272","GARD_Synonym__c":"polydactyly, preaxial type 4; polydactyly, preaxial, type iv; polysyndactyly uncomplicated; ppd4; preaxial polydactyly 4; preaxial polydactyly type 4; preaxial polydactyly type iv","Name":"Polysyndactyly 4","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":"Neonatal","Provided_By__c":"ORPHA:93338"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:93338"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009903","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/174700","Source__c":"C1868111; MONDO:0008272; ORPHA:93338","Xref__c":"OMIM:174700"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=357420","Source__c":"C1868111","Xref__c":"MEDGEN:357420"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1868111","Source__c":"C1868111","Xref__c":"C1868111"},{"URL__c":"https://www.orpha.net/en/disease/detail/93338","Source__c":"C1868111; MONDO:0008272","Xref__c":"ORPHA:93338"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060985","Source__c":"MONDO:0008272","Xref__c":"DOID:0060985"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008272","Source__c":"GARD:0009903","Xref__c":"MONDO:0008272"}],"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}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:174700","HPO_Frequency__c":"Very frequent (80-99%)","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:174700","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:174700","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005688","HPO_Name__c":"Dysplastic distal thumb phalanges with a central hole","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174700","Feature__r":{"HPO_Description__c":"Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010713","HPO_Synonym__c":"Syndactyly of all toes; Webbed 1st-5th toes","HPO_Name__c":"1-5 toe syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174700","Feature__r":{"HPO_Description__c":"A soft tissue continuity in the A/P axis between fingers 3 and 4.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011939","HPO_Name__c":"3-4 finger cutaneous syndactyly","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":["polydactyly, preaxial type 4"," polydactyly, preaxial, type iv"," polysyndactyly uncomplicated"," ppd4"," preaxial polydactyly 4"," preaxial polydactyly type 4"," preaxial polydactyly type iv"]}