{"Name":"Taurodontia-absent teeth-sparse hair syndrome","DiseaseID__c":"GARD:0005118","id":5118,"encodedName":"taurodontia-absent-teeth-sparse-hair-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Taurodontia-absent teeth-sparse hair syndrome","Xref_IDs__c":"C1848909; C536945; MEDGEN:338570; MONDO:0010102; OMIM:272980","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0010102","Disease_Description__c":"This syndrome is characterized by congenital absence of the teeth, and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families.","GARD_Name__c":"Taurodontia-absent teeth-sparse hair syndrome","GARD_Synonym__c":"taurodontia, absent teeth, and sparse hair; teeth, congenital absence of, with taurodontia and sparse hair","Curated_Disease_Description_Source__c":"GARD:0005118","Curated_Disease_Description__c":"Taurodontia, absent teeth, sparse hair syndrome is a rare condition that, as the name suggests, is primarily characterized by malformations of the primary and/or secondary molars (taurodontia); the absence of several teeth; and unusually sparse, slow-growing hair. The underlying cause of the condition is currently unknown. It appears to follow an autosomal recessive pattern of inheritance.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010102","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Taurodontia, absent teeth, sparse hair syndrome is a rare condition that, as the name suggests, is primarily characterized by malformations of the primary and/or secondary molars (taurodontia); the absence of several teeth; and unusually sparse, slow-growing hair. The underlying cause of the condition is currently unknown. It appears to follow an autosomal recessive pattern of inheritance.","Curated_Disease_Description_Source__c":"GARD:0005118","GARD_Synonym__c":"taurodontia, absent teeth, and sparse hair; teeth, congenital absence of, with taurodontia and sparse hair","Name":"Taurodontia-absent teeth-sparse hair syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Foundation for Ectodermal Dysplasias","Website__c":"https://www.nfed.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/272980","Source__c":"C1848909; MONDO:0010102","Xref__c":"OMIM:272980"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=338570","Source__c":"C1848909","Xref__c":"MEDGEN:338570"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1848909","Source__c":"C1848909","Xref__c":"C1848909"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536945","Source__c":"MONDO:0010102","Xref__c":"C536945"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010102","Source__c":"GARD:0005118","Xref__c":"MONDO:0010102"}],"tags":{},"synonyms":["taurodontia, absent teeth, and sparse hair"," teeth, congenital absence of, with taurodontia and sparse hair"]}