{"Name":"Dentinogenesis imperfecta","DiseaseID__c":"GARD:0006258","id":6258,"encodedName":"dentinogenesis-imperfecta","IsDeleted":false,"Disease_Name_Full__c":"Dentinogenesis imperfecta","Xref_IDs__c":"196286005; C0011436; C84667; D003811; DOID:4154; HP:0000703; MEDGEN:8313; MONDO:0018849; ORPHA:49042","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018849","Disease_Description__c":"Dentinogenesis imperfecta (DGI) is a hereditary dentin defect (see this term) characterized by abnormal dentin structure resulting in abnormal tooth development.","GARD_Name__c":"Dentinogenesis imperfecta","GARD_Synonym__c":"dentinogenesis imperfecta (disease); dentinogenesis imperfecta without osteogenesis imperfecta; dgi; dgi without oi; di; hereditary opalescent dentin; non-syndromic dentinogenesis imperfecta; non-syndromic dgi; opalescent teeth without oi; opalescent teeth without osteogenesis imperfecta","Curated_Disease_Description_Source__c":"GARD:0006258","Curated_Disease_Description__c":"Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary (baby) teeth and permanent teeth. Researchers have described three types of dentinogenesis imperfecta with similar dental abnormalities. Type I occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle and easily broken. Dentinogenesis imperfecta type II and type III usually occur in people without other inherited disorders. A few older individuals with type II have had progressive high-frequency hearing loss in addition to dental abnormalities, but it is not known whether this hearing loss is related to dentinogenesis imperfecta. Some researchers believe that dentinogenesis imperfecta type II and type III, along with a condition called dentin dysplasia type II, are actually forms of a single disorder. The signs and symptoms of dentin dysplasia type II are very similar to those of dentinogenesis imperfecta.  However, dentin dysplasia type II affects the primary teeth much more than the permanent teeth.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:49042","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018849","ORPHANET_ID__c":"ORPHA:49042","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Dentinogénesis imperfecta","Spanish_Description_Source__c":"ORPHA:49042","Spanish_Description__c":"La dentinogénesis imperfecta (DGI) es un defecto hereditario de la dentina (consulte este término) caracterizado por una estructura anómala de la dentina que da lugar a un desarrollo anómalo de los dientes.","Spanish_Disease_Name__c":"dentinogénesis imperfecta","Spanish_GARD_Synonym__c":"dentinogénesis imperfecta no sindrómica; dentinogénesis imperfecta sin osteogénesis imperfecta; dgi; dgi no sindrómica; dgi sin oi; di; dientes opalescentes sin oi; dientes opalescentes sin osteogénesis imperfecta","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":"Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary (baby) teeth and permanent teeth. Researchers have described three types of dentinogenesis imperfecta with similar dental abnormalities. Type I occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle and easily broken. Dentinogenesis imperfecta type II and type III usually occur in people without other inherited disorders. A few older individuals with type II have had progressive high-frequency hearing loss in addition to dental abnormalities, but it is not known whether this hearing loss is related to dentinogenesis imperfecta. Some researchers believe that dentinogenesis imperfecta type II and type III, along with a condition called dentin dysplasia type II, are actually forms of a single disorder. The signs and symptoms of dentin dysplasia type II are very similar to those of dentinogenesis imperfecta.  However, dentin dysplasia type II affects the primary teeth much more than the permanent teeth.","Curated_Disease_Description_Source__c":"GARD:0006258","GARD_Synonym__c":"dentinogenesis imperfecta (disease); dentinogenesis imperfecta without osteogenesis imperfecta; dgi; dgi without oi; di; hereditary opalescent dentin; non-syndromic dentinogenesis imperfecta; non-syndromic dgi; opalescent teeth without oi; opalescent teeth without osteogenesis imperfecta","Name":"Dentinogenesis imperfecta","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Foundation for Ectodermal Dysplasias","Website__c":"https://www.nfed.org/"},{"Account_Name__c":"Osteogenesis Imperfecta Foundation","Website__c":"https://oif.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":"Odontology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:49042"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=8313","Source__c":"C0011436","Xref__c":"MEDGEN:8313"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84667","Source__c":"C0011436; MONDO:0018849","Xref__c":"C84667"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=196286005","Source__c":"C0011436; MONDO:0018849","Xref__c":"196286005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0011436","Source__c":"C0011436","Xref__c":"C0011436"},{"URL__c":"https://www.orpha.net/en/disease/detail/49042","Source__c":"C0011436; MONDO:0018849; ORPHA:49042","Xref__c":"ORPHA:49042"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A4154","Source__c":"MONDO:0018849","Xref__c":"DOID:4154"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C003811","Source__c":"C0011436; MONDO:0018849","Xref__c":"D003811"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018849","Source__c":"GARD:0006258","Xref__c":"MONDO:0018849"},{"URL__c":"https://medlineplus.gov/genetics/condition/dentinogenesis-imperfecta","Source__c":"GARD:0006258","Xref__c":"https://medlineplus.gov/genetics/condition/dentinogenesis-imperfecta"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0000703","Source__c":"C0011436","Xref__c":"HP:0000703"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:49042","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Mineralized substance filling the entire dental pulp space.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006350","HPO_Synonym__c":"Obliteration of the pulp chamber; Pulp canal obliteration; Reduced size of pulp chamber of tooth; Small pulp chamber of tooth","HPO_Name__c":"Pulp obliteration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49042","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006335","HPO_Synonym__c":"Deciduous teeth retention; Delayed loss of baby teeth; Delayed loss of deciduous teeth; Delayed loss of primary teeth; Failure to exfoliate deciduous teeth; Failure to exfoliate primary teeth; Failure to lose baby teeth; Persistence of deciduous teeth; Persistent deciduous dentition; Persistent primary dentition; Persistent primary teeth; Retained baby teeth; Retained deciduous teeth; Retained primary teeth","HPO_Name__c":"Persistence of primary teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49042","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the dental pulp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006479","HPO_Synonym__c":"Abnormality of the dental pulp; Abnormality of tooth pulp","HPO_Name__c":"Abnormal dental pulp morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49042","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000978","HPO_Synonym__c":"Bruisability; Bruise easily; Bruising susceptibility; Easy bruisability; Easy bruising","HPO_Name__c":"Bruising susceptibility","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49042","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormal bluish coloration of the sclera.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000592","HPO_Synonym__c":"Blue sclera; Bluish sclerae; Gray sclerae; Whites of eyes are a bluish-gray color","HPO_Name__c":"Blue sclerae","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49042","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the dental root.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006486","HPO_Synonym__c":"Abnormality of the dental root; Abnormality of tooth root; Dental root anomaly","HPO_Name__c":"Abnormal dental root morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49042","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001382","HPO_Synonym__c":"Double-Jointed; Extensible joints; Flexible joints; Hyperextensible joints; Increased joint mobility; Increased mobility of joints; Joint hyperextensibility; Joint hyperflexibility; Joint hyperlaxity; Joint laxity; Joints move beyond expected range of motion; Lax joints; Loose-jointedness","HPO_Name__c":"Joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49042","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The ability of the elbow joint to move beyond its normal range of motion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010485","HPO_Name__c":"Hyperextensibility at elbow","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49042","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045086","HPO_Synonym__c":"Knee joint over-flexibility","HPO_Name__c":"Knee joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49042","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A gray discoloration of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000683","HPO_Synonym__c":"Gray colored tooth enamel; Gray tooth shade; Grayish enamel; Greyish enamel","HPO_Name__c":"Grayish enamel","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49042","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of dentin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010299","HPO_Synonym__c":"Abnormal dentin; Abnormality of dentin; Abnormality of dentine; Dentin anomaly","HPO_Name__c":"Abnormal dentin morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49042","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A generalized form of developmental hypoplasia of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006282","HPO_Synonym__c":"Generalized hypoplasia of tooth enamel","HPO_Name__c":"Generalized hypoplasia of dental enamel","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49042","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025124","HPO_Synonym__c":"Enamel with tendency to chip; Spontaneous tooth fracture","HPO_Name__c":"Fragile teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49042","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003010","HPO_Synonym__c":"Increased bleeding time; Prolonged bleeding time","HPO_Name__c":"Prolonged bleeding time","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49042","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006094","HPO_Synonym__c":"Increased mobility in finger joint","HPO_Name__c":"Finger joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49042","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Agenesis specifically affecting one of the classes incisor, premolar, or molar.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001592","HPO_Synonym__c":"Agenesis of a tooth; Failure of development of a tooth","HPO_Name__c":"Selective tooth agenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49042","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006336","HPO_Synonym__c":"Decreased length of dental roots; Decreased length of tooth roots; Dental root hypoplasia; Dental root hypotrophy; Rhizomicry; Root dwarfism; Short dental roots; Short tooth roots; Underdeveloped dental roots","HPO_Name__c":"Short dental root","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49042","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49042","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of hypomineralization of enamel characterized by reduced calcification.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011084","HPO_Synonym__c":"Decreased enamel calcification; Poorly calcified tooth enamel","HPO_Name__c":"Hypocalcification of dental enamel","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49042","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006286","HPO_Synonym__c":"Yellow-brown discoloration of the teeth; Yellow-brown discolored teeth; Yellow-brown tooth shade","HPO_Name__c":"Yellow-brown discoloration of the teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49042","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Odontology","Pediatrics"]},"synonyms":["dentinogenesis imperfecta (disease)"," dentinogenesis imperfecta without osteogenesis imperfecta"," dgi"," dgi without oi"," di"," hereditary opalescent dentin"," non-syndromic dentinogenesis imperfecta"," non-syndromic dgi"," opalescent teeth without oi"," opalescent teeth without osteogenesis imperfecta"]}