{"Name":"Dentin dysplasia","DiseaseID__c":"GARD:0016575","id":16575,"encodedName":"dentin-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Dentin dysplasia","Xref_IDs__c":"109492001; C0011430; D003805; DOID:701; HP:0033784; MEDGEN:8310; MONDO:0015613; ORPHA:1653","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015613","Disease_Description__c":"Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects (see this term) and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II (see these terms).","GARD_Name__c":"Dentin dysplasia","GARD_Synonym__c":"dd; dentinal dysplasia; dentine dysplasia","Curated_Disease_Description_Source__c":"ORPHA:1653","Curated_Disease_Description__c":"Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:1653","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015613","ORPHANET_ID__c":"ORPHA:1653","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia de la dentina","Spanish_Description_Source__c":"ORPHA:1653","Spanish_Description__c":"La displasia de la dentina (DD; ver este término) es una enfermedad rara que pertenece al grupo de defectos hereditarios de la dentina. Se caracteriza por un desarrollo anómalo de la estructura de la dentina y de las raíces que da lugar a un desarrollo anómalo de los dientes. Abarca dos subtipos: DD tipo I y DD tipo II.","Spanish_Disease_Name__c":"displasia de la dentina","Spanish_GARD_Synonym__c":"dd","Category_Linearization__c":"ORPHA:98026","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":"Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II.","Curated_Disease_Description_Source__c":"ORPHA:1653","GARD_Synonym__c":"dd; dentinal dysplasia; dentine dysplasia","Name":"Dentin dysplasia","estimateUsa":""}],"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":"Odontology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:1653"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0011430","Source__c":"C0011430","Xref__c":"C0011430"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C003805","Source__c":"C0011430; MONDO:0015613","Xref__c":"D003805"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=109492001","Source__c":"C0011430; MONDO:0015613","Xref__c":"109492001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=8310","Source__c":"C0011430","Xref__c":"MEDGEN:8310"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A701","Source__c":"MONDO:0015613","Xref__c":"DOID:701"},{"URL__c":"https://www.orpha.net/en/disease/detail/1653","Source__c":"C0011430; MONDO:0015613; ORPHA:1653","Xref__c":"ORPHA:1653"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0033784","Source__c":"C0011430","Xref__c":"HP:0033784"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015613","Source__c":"GARD:0016575","Xref__c":"MONDO:0015613"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1653","HPO_Frequency__c":"Very frequent (80-99%)","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:1653","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000682","HPO_Synonym__c":"Abnormal tooth enamel; Abnormality of dental enamel; Enamel abnormalities; Enamel abnormality","HPO_Name__c":"Abnormal dental enamel morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1653","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100777","HPO_Synonym__c":"Formation of new noncancerous bone on top of existing bone","HPO_Name__c":"Exostoses","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1653","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the morphology of the tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006482","HPO_Synonym__c":"Abnormality of dental morphology; Abnormality of dental shape; Abnormality of shape of tooth; Abnormally shaped teeth; Deformity of teeth; Dental deformity; Dental malformations; Malformation of teeth; Malformed teeth; Misshapen teeth; Misshapened teeth","HPO_Name__c":"Abnormal dental morphology","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Odontology","Pediatrics"]},"synonyms":["dd"," dentinal dysplasia"," dentine dysplasia"]}