{"Name":"Dentinogenesis imperfecta type 2","DiseaseID__c":"GARD:0012796","id":12796,"encodedName":"dentinogenesis-imperfecta-type-2","IsDeleted":false,"Disease_Name_Full__c":"Dentinogenesis imperfecta type 2","Xref_IDs__c":"C2973527; MEDGEN:424922; MONDO:0007441; OMIM:125490; ORPHA:166260","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":0,"World_Estimate__c":"800,000 to 5,000,000","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:0007441","Disease_Description__c":"Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) and is characterized by weakness and discoloration of all teeth.","GARD_Name__c":"Dentinogenesis imperfecta type 2","GARD_Synonym__c":"capdepont teeth; dentinogenesis imperfecta - shield's type ii; dentinogenesis imperfecta 1; dentinogenesis imperfecta type 1; dentinogenesis imperfecta, shields type 2; dentinogenesis imperfecta, shields type ii; dgi-2; dgi1; di-2; hereditary opalescent dentine; opalescent dentin","Curated_Disease_Description_Source__c":"GARD:0012796","Curated_Disease_Description__c":"Dentinogenesis imperfecta type 2 is a rare and severe form of dentinogenesis imperfecta, a condition that affects tooth development. People affected by the condition may have weak and discolored teeth. These problems can affect both primary (baby) teeth and permanent teeth. People with this form of dentinogenesis imperfecta have no normal teeth. Sensorineural hearing loss has also been found in some affected people. Dentinogenesis imperfecta type 2 is caused by changes in the DSPP gene and is inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:166260","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007441","ORPHANET_ID__c":"ORPHA:166260","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Dentinogénesis imperfecta tipo 2","Spanish_Description_Source__c":"ORPHA:166260","Spanish_Description__c":"La dentinogénesis imperfecta tipo 2 (DGI-2) es una forma grave y poco frecuente de la dentinogénesis imperfecta (DGI; ver este término), caracterizada por debilidad y decoloración de todos los dientes.","Spanish_Disease_Name__c":"dentinogénesis imperfecta tipo 2","Spanish_GARD_Synonym__c":"dentinogénesis imperfecta de shields tipo 2; dentinogénesis imperfecta shields tipo  2; dgi-2; di-2; dientes de capdepont","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 type 2 is a rare and severe form of dentinogenesis imperfecta, a condition that affects tooth development. People affected by the condition may have weak and discolored teeth. These problems can affect both primary (baby) teeth and permanent teeth. People with this form of dentinogenesis imperfecta have no normal teeth. Sensorineural hearing loss has also been found in some affected people. Dentinogenesis imperfecta type 2 is caused by changes in the DSPP gene and is inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0012796","GARD_Synonym__c":"capdepont teeth; dentinogenesis imperfecta - shield's type ii; dentinogenesis imperfecta 1; dentinogenesis imperfecta type 1; dentinogenesis imperfecta, shields type 2; dentinogenesis imperfecta, shields type ii; dgi-2; dgi1; di-2; hereditary opalescent dentine; opalescent dentin","Name":"Dentinogenesis imperfecta type 2","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"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":"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:166260"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012796","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/125490","Source__c":"C2973527; MONDO:0007441; ORPHA:166260","Xref__c":"OMIM:125490"},{"URL__c":"https://www.orpha.net/en/disease/detail/166260","Source__c":"C2973527; MONDO:0007441; ORPHA:166260","Xref__c":"ORPHA:166260"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=424922","Source__c":"C2973527","Xref__c":"MEDGEN:424922"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2973527","Source__c":"C2973527","Xref__c":"C2973527"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=234969005","Source__c":"C2973527","Xref__c":"234969005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007441","Source__c":"GARD:0012796","Xref__c":"MONDO:0007441"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DSPP","GHR_URL__c":"https://medlineplus.gov/genetics/gene/dspp","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:125490","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":"OMIM:125490","Feature__r":{"HPO_Description__c":"Developmental dysplasia of dentin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000703","HPO_Name__c":"Dentinogenesis imperfecta","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Odontology","Pediatrics"]},"synonyms":["capdepont teeth"," dentinogenesis imperfecta - shield's type ii"," dentinogenesis imperfecta 1"," dentinogenesis imperfecta type 1"," dentinogenesis imperfecta, shields type 2"," dentinogenesis imperfecta, shields type ii"," dgi-2"," dgi1"," di-2"," hereditary opalescent dentine"," opalescent dentin"]}