{"Name":"Dentin dysplasia-sclerotic bones syndrome","DiseaseID__c":"GARD:0001808","id":1808,"encodedName":"dentin-dysplasia-sclerotic-bones-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Dentin dysplasia-sclerotic bones syndrome","Xref_IDs__c":"C1852201; C538213; MEDGEN:377618; MONDO:0007438; OMIM:125440; ORPHA:99792","USA_Estimate__c":"1,000","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":"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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007438","Disease_Description__c":"Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977.","GARD_Name__c":"Dentin dysplasia-sclerotic bones syndrome","GARD_Synonym__c":"sclerotic bones with dentin dysplasia","Curated_Disease_Description_Source__c":"MONDO:0007438","Curated_Disease_Description__c":"Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:99792","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007438","ORPHANET_ID__c":"ORPHA:99792","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de displasia de la dentina-huesos escleróticos","Spanish_Description_Source__c":"ORPHA:99792","Spanish_Description__c":"El síndrome de displasia de la dentina - huesos escleróticos, es una enfermedad odontológica genética, poco frecuente, y caracterizada por las manifestaciones clínicas, radiológicas e histológicas típicas de la displasia de la dentina, y osteosclerosis de todos los huesos largos, con engrosamiento de hueso cortical y espacios medulares estrechados u ocluidos. No ha habido más casos descritos en la literatura desde 1977.","Spanish_Disease_Name__c":"síndrome de displasia de la dentina-huesos escleróticos","Spanish_GARD_Synonym__c":null,"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-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977.","Curated_Disease_Description_Source__c":"MONDO:0007438","GARD_Synonym__c":"sclerotic bones with dentin dysplasia","Name":"Dentin dysplasia-sclerotic bones syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Infancy","Provided_By__c":"ORPHA:99792"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/125440","Source__c":"C1852201; MONDO:0007438; ORPHA:99792","Xref__c":"OMIM:125440"},{"URL__c":"https://www.orpha.net/en/disease/detail/99792","Source__c":"C1852201; MONDO:0007438","Xref__c":"ORPHA:99792"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=377618","Source__c":"C1852201","Xref__c":"MEDGEN:377618"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538213","Source__c":"MONDO:0007438","Xref__c":"C538213"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1852201","Source__c":"C1852201","Xref__c":"C1852201"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007438","Source__c":"GARD:0001808","Xref__c":"MONDO:0007438"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:125440","Feature__r":{"HPO_Description__c":"Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005652","HPO_Name__c":"Cortical sclerosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:125440","Feature__r":{"HPO_Description__c":"Developmental dysplasia of dentin affecting only the primary dentition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011060","HPO_Synonym__c":"Dentinogenesis imperfecta of baby teeth","HPO_Name__c":"Dentinogenesis imperfecta limited to primary teeth","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:125440","Feature__r":{"HPO_Description__c":"Any abnormality of the teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000164","HPO_Synonym__c":"Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies","HPO_Name__c":"Abnormality of the dentition","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Odontology","Pediatrics"]},"synonyms":["sclerotic bones with dentin dysplasia"]}