{"Name":"Trichorhinophalangeal syndrome","DiseaseID__c":"GARD:0021451","id":21451,"encodedName":"trichorhinophalangeal-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Trichorhinophalangeal syndrome","Xref_IDs__c":"18077009; C0265255; MEDGEN:539179; MONDO:0017951; NBK425926; OMIMPS:190350; ORPHA:324764","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":0,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:324764","Disease_Description__c":null,"GARD_Name__c":"Trichorhinophalangeal syndrome","GARD_Synonym__c":"trps","Curated_Disease_Description_Source__c":"ORPHA:324764","Curated_Disease_Description__c":"Trichorhinophalangeal syndrome (TRPS) comprises TRPS I (caused by a heterozygous pathogenic variant in TRPS1) and TRPS II (caused by a contiguous gene deletion of TRPS1, RAD21, and EXT1). Both TRPS types are characterized by distinctive facial features (large nose with broad nasal ridge and tip and underdeveloped alae; thick and broad medial eyebrows; long philtrum; thin vermilion of the upper lip; and large prominent ears); ectodermal features (fine, sparse, depigmented, and slow-growing hair and dystrophic nails); and skeletal findings (short stature, brachydactyly with ulnar or radial deviation of the fingers, short feet, and early, marked hip dysplasia). TRPS II is additionally characterized by multiple osteochondromas and an increased risk of mild-to-moderate intellectual disability.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:324764","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017951","ORPHANET_ID__c":"ORPHA:324764","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome trico-rino-falángico","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome trico-rino-falángico","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":"Trichorhinophalangeal syndrome (TRPS) comprises TRPS I (caused by a heterozygous pathogenic variant in TRPS1) and TRPS II (caused by a contiguous gene deletion of TRPS1, RAD21, and EXT1). Both TRPS types are characterized by distinctive facial features (large nose with broad nasal ridge and tip and underdeveloped alae; thick and broad medial eyebrows; long philtrum; thin vermilion of the upper lip; and large prominent ears); ectodermal features (fine, sparse, depigmented, and slow-growing hair and dystrophic nails); and skeletal findings (short stature, brachydactyly with ulnar or radial deviation of the fingers, short feet, and early, marked hip dysplasia). TRPS II is additionally characterized by multiple osteochondromas and an increased risk of mild-to-moderate intellectual disability.","Curated_Disease_Description_Source__c":"ORPHA:324764","GARD_Synonym__c":"trps","Name":"Trichorhinophalangeal syndrome","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":"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":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=539179","Source__c":"C0265255","Xref__c":"MEDGEN:539179"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS190350","Source__c":"MONDO:0017951","Xref__c":"OMIMPS:190350"},{"URL__c":"https://www.orpha.net/en/disease/detail/324764","Source__c":"C0265255; MONDO:0017951; ORPHA:324764","Xref__c":"ORPHA:324764"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=18077009","Source__c":"C0265255; MONDO:0017951","Xref__c":"18077009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265255","Source__c":"C0265255","Xref__c":"C0265255"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017951","Source__c":"GARD:0021451","Xref__c":"MONDO:0017951"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK425926","Source__c":"Gene Review","Xref__c":"NBK425926"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Orthopedics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["trps"]}