{"Name":"Hypotrichosis-deafness syndrome","DiseaseID__c":"GARD:0021504","id":21504,"encodedName":"hypotrichosis-deafness-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hypotrichosis-deafness syndrome","Xref_IDs__c":"C5190988; MEDGEN:1679303; MONDO:0018021; ORPHA:330029","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":2,"Description_Source__c":"ORPHA:330029","Disease_Description__c":"A syndromic genetic deafness characterized by erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated.","GARD_Name__c":"Hypotrichosis-deafness syndrome","GARD_Synonym__c":"hypotrichosis and deafness syndrome; hypotrichosis-hearing loss syndrome","Curated_Disease_Description_Source__c":"ORPHA:330029","Curated_Disease_Description__c":"A syndromic genetic deafness characterized by erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated.","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:330029","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018021","ORPHANET_ID__c":"ORPHA:330029","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hipotricosis-sordera","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de hipotricosis-sordera","Spanish_GARD_Synonym__c":"síndrome de hipotricosis-hipoacusia","Category_Linearization__c":"ORPHA:89826","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 syndromic genetic deafness characterized by erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated.","Curated_Disease_Description_Source__c":"ORPHA:330029","GARD_Synonym__c":"hypotrichosis and deafness syndrome; hypotrichosis-hearing loss syndrome","Name":"Hypotrichosis-deafness 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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:330029"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:330029"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5190988","Source__c":"C5190988","Xref__c":"C5190988"},{"URL__c":"https://www.orpha.net/en/disease/detail/330029","Source__c":"C5190988; MONDO:0018021; ORPHA:330029","Xref__c":"ORPHA:330029"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1679303","Source__c":"C5190988","Xref__c":"MEDGEN:1679303"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783555001","Source__c":"C5190988","Xref__c":"783555001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018021","Source__c":"GARD:0021504","Xref__c":"MONDO:0018021"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Otolaryngology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["hypotrichosis and deafness syndrome"," hypotrichosis-hearing loss syndrome"]}