{"Name":"Trichoodontoonychial dysplasia","DiseaseID__c":"GARD:0005267","id":5267,"encodedName":"trichoodontoonychial-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Trichoodontoonychial dysplasia","Xref_IDs__c":"766813000; C3279457; C564760; MEDGEN:481087; MONDO:0010153; OMIM:275450; ORPHA:3355","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":"MONDO:0010153","Disease_Description__c":"Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.","GARD_Name__c":"Trichoodontoonychial dysplasia","GARD_Synonym__c":"trichoodontoonychial dysplasia with bone deficiency in frontoparietal region","Curated_Disease_Description_Source__c":"MONDO:0010153","Curated_Disease_Description__c":"Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.","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:3355","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010153","ORPHANET_ID__c":"ORPHA:3355","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia trico-odonto-oniquial","Spanish_Description_Source__c":"ORPHA:3355","Spanish_Description__c":"Es una displasia ectodérmica poco frecuente caracterizada por hipotricosis generalizada grave, alopecia parietal, anodoncia secundaria debida a hipoplasia del esmalte, onicodistrofia, deficiencia ósea en la región frontaloparietal, y manifestaciones cutáneas (incluyendo nevos pigmentados, pápulas, efélides, queratosis palmoplantar, pezones supernumerarios, dermatoglifos anómalos). No ha habido más casos descritos en la literatura desde 1983.","Spanish_Disease_Name__c":"displasia trico-odonto-oniquial","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":"Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.","Curated_Disease_Description_Source__c":"MONDO:0010153","GARD_Synonym__c":"trichoodontoonychial dysplasia with bone deficiency in frontoparietal region","Name":"Trichoodontoonychial dysplasia","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":"Odontology","Tag_Category__c":"Specialist"},{"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":"Infancy","Provided_By__c":"ORPHA:3355"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3355"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564760","Source__c":"MONDO:0010153","Xref__c":"C564760"},{"URL__c":"https://www.omim.org/entry/275450","Source__c":"C3279457; MONDO:0010153; ORPHA:3355","Xref__c":"OMIM:275450"},{"URL__c":"https://www.orpha.net/en/disease/detail/3355","Source__c":"C3279457; MONDO:0010153","Xref__c":"ORPHA:3355"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=766813000","Source__c":"MONDO:0010153","Xref__c":"766813000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=481087","Source__c":"C3279457","Xref__c":"MEDGEN:481087"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3279457","Source__c":"C3279457","Xref__c":"C3279457"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010153","Source__c":"GARD:0005267","Xref__c":"MONDO:0010153"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Odontology","Pediatrics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["trichoodontoonychial dysplasia with bone deficiency in frontoparietal region"]}