{"Name":"Trichodysplasia-amelogenesis imperfecta syndrome","DiseaseID__c":"GARD:0018943","id":18943,"encodedName":"trichodysplasia-amelogenesis-imperfecta-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Trichodysplasia-amelogenesis imperfecta syndrome","Xref_IDs__c":"C4304344; MEDGEN:930013; MONDO:0019205; ORPHA:79129","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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019205","Disease_Description__c":"A rare ectodermal dysplasia syndrome characterized by the association of amelogenesis imperfecta and trichodysplasia with symmetrical pits in the cuticles of hair shafts. There have been no further descriptions in the literature since 1993.","GARD_Name__c":"Trichodysplasia-amelogenesis imperfecta syndrome","GARD_Synonym__c":"trichodysplasia with amelogenesis imperfecta syndrome","Curated_Disease_Description_Source__c":"ORPHA:79129","Curated_Disease_Description__c":"A rare ectodermal dysplasia syndrome characterized by the association of amelogenesis imperfecta and trichodysplasia with symmetrical pits in the cuticles of hair shafts.","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:79129","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019205","ORPHANET_ID__c":"ORPHA:79129","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de tricodisplasia-amelogénesis imperfecta","Spanish_Description_Source__c":"ORPHA:79129","Spanish_Description__c":"Es un síndrome poco frecuente de displasia ectodérmica caracterizado por la asociación de amelogénesis imperfecta y tricodisplasia con fosas simétricas en la cutícula de los tallos pilosos. No ha habido más descripciones en la literatura desde 1993.","Spanish_Disease_Name__c":"síndrome de tricodisplasia-amelogénesis imperfecta","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":"A rare ectodermal dysplasia syndrome characterized by the association of amelogenesis imperfecta and trichodysplasia with symmetrical pits in the cuticles of hair shafts.","Curated_Disease_Description_Source__c":"ORPHA:79129","GARD_Synonym__c":"trichodysplasia with amelogenesis imperfecta syndrome","Name":"Trichodysplasia-amelogenesis imperfecta 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":"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:79129"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79129"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=930013","Source__c":"C4304344","Xref__c":"MEDGEN:930013"},{"URL__c":"https://www.orpha.net/en/disease/detail/79129","Source__c":"C4304344; MONDO:0019205; ORPHA:79129","Xref__c":"ORPHA:79129"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4304344","Source__c":"C4304344","Xref__c":"C4304344"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019205","Source__c":"GARD:0018943","Xref__c":"MONDO:0019205"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719911000","Source__c":"C4304344","Xref__c":"719911000"}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79129","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Developmental dysplasia of the hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002552","HPO_Name__c":"Trichodysplasia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79129","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002293","HPO_Synonym__c":"Pathologic hair loss from scalp; Scalp hair loss","HPO_Name__c":"Alopecia of scalp","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79129","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental dysplasia of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000705","HPO_Name__c":"Amelogenesis imperfecta","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Odontology","Pediatrics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["trichodysplasia with amelogenesis imperfecta syndrome"]}