{"Name":"Trichodental syndrome","DiseaseID__c":"GARD:0000265","id":265,"encodedName":"trichodental-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Trichodental syndrome","Xref_IDs__c":"277810000; C0406724; C536551; MEDGEN:96068; MONDO:0011083; OMIM:601453; ORPHA:3351","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":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011083","Disease_Description__c":"A rare ectodermal dysplasia syndrome characterized by the association of sparse, fine, dry, slow growing hair with variable dental abnormalities including oligodontia, peg-shaped incisors, and shell teeth. Mild intellectual disability, microcephaly, and dysmorphic facial features have also been reported.","GARD_Name__c":"Trichodental syndrome","GARD_Synonym__c":"kersey syndrome; trichodental dysplasia","Curated_Disease_Description_Source__c":"MONDO:0011083","Curated_Disease_Description__c":"A rare ectodermal dysplasia syndrome characterized by the association of sparse, fine, dry, slow growing hair with variable dental abnormalities including oligodontia, peg-shaped incisors, and shell teeth. Mild intellectual disability, microcephaly, and dysmorphic facial features have also been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:3351","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011083","ORPHANET_ID__c":"ORPHA:3351","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome trico-dental","Spanish_Description_Source__c":"ORPHA:3351","Spanish_Description__c":"Es un síndrome de displasia ectodérmica poco frecuente caracterizado por la asociación de cabello escaso, fino, seco y de crecimiento lento con anomalías dentales variables, como oligodoncia, incisivos en forma de clavija y dientes en concha. También se ha descrito leve discapacidad intelectual, microcefalia y rasgos faciales dismórficos.","Spanish_Disease_Name__c":"síndrome trico-dental","Spanish_GARD_Synonym__c":"síndrome de kersey","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 sparse, fine, dry, slow growing hair with variable dental abnormalities including oligodontia, peg-shaped incisors, and shell teeth. Mild intellectual disability, microcephaly, and dysmorphic facial features have also been reported.","Curated_Disease_Description_Source__c":"MONDO:0011083","GARD_Synonym__c":"kersey syndrome; trichodental dysplasia","Name":"Trichodental syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Foundation for Ectodermal Dysplasias","Website__c":"https://www.nfed.org/"}],"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":"Childhood","Provided_By__c":"ORPHA:3351"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/601453","Source__c":"C0406724; MONDO:0011083; ORPHA:3351","Xref__c":"OMIM:601453"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536551","Source__c":"MONDO:0011083","Xref__c":"C536551"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0406724","Source__c":"C0406724","Xref__c":"C0406724"},{"URL__c":"https://www.orpha.net/en/disease/detail/3351","Source__c":"C0406724; MONDO:0011083; ORPHA:3351","Xref__c":"ORPHA:3351"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=96068","Source__c":"C0406724","Xref__c":"MEDGEN:96068"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=277810000","Source__c":"C0406724; MONDO:0011083","Xref__c":"277810000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011083","Source__c":"GARD:0000265","Xref__c":"MONDO:0011083"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:601453","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601453","Feature__r":{"HPO_Description__c":"An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000698","HPO_Synonym__c":"Cone shaped tooth; Conoid tooth; Peg shaped teeth; Peg tooth; Peg-shaped teeth; Shark tooth","HPO_Name__c":"Conical tooth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601453","Feature__r":{"HPO_Description__c":"Reduced density of hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008070","HPO_Synonym__c":"Decreased hair growth; Decreased hair growth on body; Hypotrichosis; Marked hypotrichosis; Sparse hair; Sparse hair since birth","HPO_Name__c":"Sparse hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601453","Feature__r":{"HPO_Description__c":"The absence of five or less teeth from the normal series by a failure to develop.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000668","HPO_Synonym__c":"Failure of development of between one and six teeth","HPO_Name__c":"Hypodontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601453","Feature__r":{"HPO_Description__c":"Hair whose growth is slower than normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002217","HPO_Synonym__c":"Delayed hair growth; Poor hair growth; Slow growing hair; Slow rate of hair growth; Slow speed of hair growth; Slow-growing hair","HPO_Name__c":"Slow-growing hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601453","Feature__r":{"HPO_Description__c":"Fragile, easily breakable hair, i.e., with reduced tensile strength.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002299","HPO_Synonym__c":"Brittle hair","HPO_Name__c":"Brittle hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601453","Feature__r":{"HPO_Description__c":"The diagnosis odontodysplasia requires clinical and radiological exams, in which unusually large pulp chambers and large pulp room chambers with thin enamel and dentin are visible. It may affect either a single tooth or several teeth. The term regional odontodysplasia is used if several teeth are affected. It affects the deciduous and permanent dentitions in the maxilla, the mandible or both, although the maxilla is more frequently involved. A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000694","HPO_Synonym__c":"Ghost teeth; Shell teeth; Teeth with dentinal dysplasia; Teeth with thin dentin and large pulp chambers; Teeth with type iii dentinogenesis imperfecta","HPO_Name__c":"Odontodysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601453","Feature__r":{"HPO_Description__c":"Hair that is fine or thin to the touch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002213","HPO_Synonym__c":"Fine hair; Fine hair shaft; Fine hair texture; Thin hair; Thin hair shaft; Thin hair texture; Thinned hair","HPO_Name__c":"Fine hair","Feature_System__c":"Skin 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":["kersey syndrome"," trichodental dysplasia"]}