{"Name":"Oculotrichodysplasia","DiseaseID__c":"GARD:0016607","id":16607,"encodedName":"oculotrichodysplasia","IsDeleted":false,"Disease_Name_Full__c":"Oculotrichodysplasia","Xref_IDs__c":"722062004; C1850332; C564934; MEDGEN:340517; MONDO:0009771; OMIM:257960; ORPHA:2718","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009771","Disease_Description__c":"A rare ectodermal dysplasia syndrome characterized by bilateral retinitis pigmentosa, trichodysplasia (generalized hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin. There have been no further descriptions in the literature since 1988.","GARD_Name__c":"Oculotrichodysplasia","GARD_Synonym__c":"cecato de lima-pinheiro syndrome; cecatto de lima pinheiro syndrome; otd","Curated_Disease_Description_Source__c":"ORPHA:2718","Curated_Disease_Description__c":"A rare ectodermal dysplasia syndrome characterized by bilateral retinitis pigmentosa, trichodysplasia (generalized hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:2718","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009771","ORPHANET_ID__c":"ORPHA:2718","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Oculotricodisplasia","Spanish_Description_Source__c":"ORPHA:2718","Spanish_Description__c":"Es un síndrome de displasia ectodérmica poco frecuente caracterizado por retinosis pigmentaria bilateral, tricodisplasia (hipotricosis generalizada, cambios estructurales), anomalías dentales, onicodisplasia y piel seca y escamosa. No ha habido más descripciones en la literatura desde 1988.","Spanish_Disease_Name__c":"oculotricodisplasia","Spanish_GARD_Synonym__c":"síndrome de cecato de lima-pinheiro","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 ectodermal dysplasia syndrome characterized by bilateral retinitis pigmentosa, trichodysplasia (generalized hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin.","Curated_Disease_Description_Source__c":"ORPHA:2718","GARD_Synonym__c":"cecato de lima-pinheiro syndrome; cecatto de lima pinheiro syndrome; otd","Name":"Oculotrichodysplasia","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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2718"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564934","Source__c":"MONDO:0009771","Xref__c":"C564934"},{"URL__c":"https://www.orpha.net/en/disease/detail/2718","Source__c":"C1850332; MONDO:0009771; ORPHA:2718","Xref__c":"ORPHA:2718"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1850332","Source__c":"C1850332","Xref__c":"C1850332"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=340517","Source__c":"C1850332","Xref__c":"MEDGEN:340517"},{"URL__c":"https://www.omim.org/entry/257960","Source__c":"C1850332; MONDO:0009771; ORPHA:2718","Xref__c":"OMIM:257960"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722062004","Source__c":"C1850332; MONDO:0009771","Xref__c":"722062004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009771","Source__c":"GARD:0016607","Xref__c":"MONDO:0009771"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Dermatology","Retinal","Pediatrics"],"Account":["Dermatology","Retinal","Ectodermal dysplasia"]},"synonyms":["cecato de lima-pinheiro syndrome"," cecatto de lima pinheiro syndrome"," otd"]}