{"Name":"Tricho-dento-osseous syndrome","DiseaseID__c":"GARD:0007799","id":7799,"encodedName":"tricho-dento-osseous-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Tricho-dento-osseous syndrome","Xref_IDs__c":"38993008; C0265333; C536549; DOID:0111565; MEDGEN:78555; MONDO:0008592; OMIM:190320; ORPHA:3352","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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008592","Disease_Description__c":"Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.","GARD_Name__c":"Tricho-dento-osseous syndrome","GARD_Synonym__c":"amelogenesis imperfecta - osteosclerosis syndrome; taurodontism - curly hair - osteosclerosis syndrome; tdo; tdo - trichodento-osseous syndrome; tdo syndrome; tricho dento osseous syndrome; trichodento-osseous syndrome; trichodentoosseous syndrome; trichodontoosseous syndrome","Curated_Disease_Description_Source__c":"MONDO:0008592","Curated_Disease_Description__c":"Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:3352","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008592","ORPHANET_ID__c":"ORPHA:3352","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome trico-dento-óseo","Spanish_Description_Source__c":"ORPHA:3352","Spanish_Description__c":"La displasia trico-dento-ósea (TDO) pertenece al grupo de displasias ectodérmicas y se caracteriza por cabellos crespos o rizados desde el nacimiento, hipoplasia del esmalte con decoloración y taurodontismo en molares, aumento de la densidad mineral ósea (DMO) general y aumento en el grosor de los huesos corticales del cráneo.","Spanish_Disease_Name__c":"síndrome trico-dento-óseo","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":"Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.","Curated_Disease_Description_Source__c":"MONDO:0008592","GARD_Synonym__c":"amelogenesis imperfecta - osteosclerosis syndrome; taurodontism - curly hair - osteosclerosis syndrome; tdo; tdo - trichodento-osseous syndrome; tdo syndrome; tricho dento osseous syndrome; trichodento-osseous syndrome; trichodentoosseous syndrome; trichodontoosseous syndrome","Name":"Tricho-dento-osseous 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":"Orthopedics","Tag_Category__c":"Specialist"},{"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:3352"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0265333"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007799","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536549","Source__c":"MONDO:0008592","Xref__c":"C536549"},{"URL__c":"https://www.orpha.net/en/disease/detail/3352","Source__c":"C0265333; MONDO:0008592; ORPHA:3352","Xref__c":"ORPHA:3352"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265333","Source__c":"C0265333","Xref__c":"C0265333"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78555","Source__c":"C0265333","Xref__c":"MEDGEN:78555"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111565","Source__c":"MONDO:0008592","Xref__c":"DOID:0111565"},{"URL__c":"https://www.omim.org/entry/190320","Source__c":"C0265333; MONDO:0008592; ORPHA:3352","Xref__c":"OMIM:190320"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=38993008","Source__c":"C0265333; MONDO:0008592","Xref__c":"38993008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008592","Source__c":"GARD:0007799","Xref__c":"MONDO:0008592"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DLX3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3352","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Agenesis of incisor.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006485","HPO_Synonym__c":"Failure of development of incisor","HPO_Name__c":"Agenesis of incisor","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011001","HPO_Synonym__c":"Increased bone density; Increased bone mineral density; Osteosclerosis; Osteosclerosis of bones","HPO_Name__c":"Increased bone mineral density","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Nails that easily break.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001808","HPO_Synonym__c":"Brittle nails","HPO_Name__c":"Fragile nails","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000679","HPO_Synonym__c":"Taurodont; Taurodontism","HPO_Name__c":"Taurodontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal structure or appearance of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001597","HPO_Synonym__c":"Abnormality of the nail","HPO_Name__c":"Abnormal nail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000268","HPO_Synonym__c":"Long, narrow head; Tall and narrow skull","HPO_Name__c":"Dolichocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of small depressions in the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009722","HPO_Synonym__c":"Dental enamel pits; Dental enamel pitting; Pitting of tooth enamel; Tooth enamel pits","HPO_Name__c":"Dental enamel pits","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000691","HPO_Synonym__c":"Decreased size of tooth; Decreased width of tooth; Small teeth; Small tooth; Tooth hypoplasia; Tooth hypotrophy; Underdeveloped tooth","HPO_Name__c":"Microdontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006285","HPO_Synonym__c":"Decreased enamel mineralisation; Hypomineralization of enamel; Mottled tooth enamel; Poorly mineralized tooth enamel","HPO_Name__c":"Enamel hypomineralization","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000264","HPO_Synonym__c":"Abnormality of mastoid process of temporal bone; Abnormality of the mastoid","HPO_Name__c":"Abnormal mastoid morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3352","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040019","HPO_Name__c":"Finger clinodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased spaces (diastemata) between most of the teeth in the same dental arch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000687","HPO_Synonym__c":"Generalized dental spacing; Generalized spacing of teeth; Multiple diastemata; Wide-spaced teeth; Widely spaced teeth; Widely-spaced teeth","HPO_Name__c":"Widely spaced teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A tooth abscess that occurs at the tip of the root (apex) of a tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030758","HPO_Name__c":"Periapical tooth abscess","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal amount of hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011362","HPO_Synonym__c":"Abnormal hair quantity; Abnormality of hair density","HPO_Name__c":"Abnormal hair quantity","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002007","HPO_Synonym__c":"Frontal protuberance; Skull bossing","HPO_Name__c":"Frontal bossing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030312","HPO_Synonym__c":"Obliteration of cranial cancellous bone","HPO_Name__c":"Obliteration of the calvarial diploe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Orthopedics","Odontology","Pediatrics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["amelogenesis imperfecta - osteosclerosis syndrome"," taurodontism - curly hair - osteosclerosis syndrome"," tdo"," tdo - trichodento-osseous syndrome"," tdo syndrome"," tricho dento osseous syndrome"," trichodento-osseous syndrome"," trichodentoosseous syndrome"," trichodontoosseous syndrome"]}