{"Name":"Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome","DiseaseID__c":"GARD:0021953","id":21953,"encodedName":"autosomal-dominant-preaxial-polydactyly-upperback-hypertrichosis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome","Xref_IDs__c":"C5568802; MEDGEN:1800225; MONDO:0018777; ORPHA:476119","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":1,"Description_Source__c":"ORPHA:476119","Disease_Description__c":"A rare genetic syndrome with limb malformations as a major feature characterized by preaxial polydactyly of the hands and feet with variable phenotypic expressivity in combination with hypertrichosis extending from the posterior hairline to the middle of the back. Reported limb malformations include triphalangeal thumbs, duplicated thumbs, preaxial extra ray, and syndactyly between digits I and II in the hands, and large or duplicated hallux and syndactyly between toes I and II in the feet.","GARD_Name__c":"Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome","GARD_Synonym__c":"autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome","Curated_Disease_Description_Source__c":"ORPHA:476119","Curated_Disease_Description__c":"A rare genetic syndrome with limb malformations as a major feature characterized by preaxial polydactyly of the hands and feet with variable phenotypic expressivity in combination with hypertrichosis extending from the posterior hairline to the middle of the back. Reported limb malformations include triphalangeal thumbs, duplicated thumbs, preaxial extra ray, and syndactyly between digits I and II in the hands, and large or duplicated hallux and syndactyly between toes I and II in the feet.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:476119","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018777","ORPHANET_ID__c":"ORPHA:476119","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de polidactilia preaxial-hipertricosis de la parte superior de la espalda autosómico dominante","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de polidactilia preaxial-hipertricosis de la parte superior de la espalda autosómico dominante","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 genetic syndrome with limb malformations as a major feature characterized by preaxial polydactyly of the hands and feet with variable phenotypic expressivity in combination with hypertrichosis extending from the posterior hairline to the middle of the back. Reported limb malformations include triphalangeal thumbs, duplicated thumbs, preaxial extra ray, and syndactyly between digits I and II in the hands, and large or duplicated hallux and syndactyly between toes I and II in the feet.","Curated_Disease_Description_Source__c":"ORPHA:476119","GARD_Synonym__c":"autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome","Name":"Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome","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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin 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:476119"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1800225","Source__c":"C5568802","Xref__c":"MEDGEN:1800225"},{"URL__c":"https://www.orpha.net/en/disease/detail/476119","Source__c":"C5568802; MONDO:0018777; ORPHA:476119","Xref__c":"ORPHA:476119"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5568802","Source__c":"C5568802","Xref__c":"C5568802"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018777","Source__c":"GARD:0021953","Xref__c":"MONDO:0018777"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1187115008","Source__c":"C5568802","Xref__c":"1187115008"}],"GARD_Disease_Gene__c":[{"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"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Orthopedics","Pediatrics"],"Account":["Dermatology","Congenital limb malformation"]},"synonyms":["autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome"]}