{"Name":"Dentin dysplasia type I","DiseaseID__c":"GARD:0001807","id":1807,"encodedName":"dentin-dysplasia-type-i","IsDeleted":false,"Disease_Name_Full__c":"Dentin dysplasia type I","Xref_IDs__c":"109493006; C0399379; C531665; C538215; MEDGEN:97996; MONDO:0007436; OMIMPS:125400; ORPHA:99789","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007436","Disease_Description__c":"Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth.","GARD_Name__c":"Dentin dysplasia type I","GARD_Synonym__c":"dd-i; dentin dysplasia, type 1; dentin dysplasia, type i; dentin dysplasia, type i, with microdontia and misshapen teeth; dentine dysplasia - shield's type i; dtdp1; radicular dentin dysplasia; radicular dentine dysplasia; rootless teeth","Curated_Disease_Description_Source__c":"MONDO:0007436","Curated_Disease_Description__c":"Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD) characterized by sharp conical short roots or rootless teeth.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:99789","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007436","ORPHANET_ID__c":"ORPHA:99789","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia de dentina tipo 1","Spanish_Description_Source__c":"ORPHA:99789","Spanish_Description__c":"La displasia de la dentina tipo I (DD-I; ver este término) es una forma poco frecuente de displasia de la dentina (DD; ver este término) que se caracteriza por raíces cortas, cónicas y afiladas o dientes sin raíz.","Spanish_Disease_Name__c":"displasia de dentina tipo 1","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 type I (DD-I) is a rare form of dentin dysplasia (DD) characterized by sharp conical short roots or rootless teeth.","Curated_Disease_Description_Source__c":"MONDO:0007436","GARD_Synonym__c":"dd-i; dentin dysplasia, type 1; dentin dysplasia, type i; dentin dysplasia, type i, with microdontia and misshapen teeth; dentine dysplasia - shield's type i; dtdp1; radicular dentin dysplasia; radicular dentine dysplasia; rootless teeth","Name":"Dentin dysplasia type I","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"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:99789"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0399379"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001807","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=97996","Source__c":"C0399379","Xref__c":"MEDGEN:97996"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C531665","Source__c":"MONDO:0007436","Xref__c":"C531665"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0399379","Source__c":"C0399379","Xref__c":"C0399379"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=109493006","Source__c":"C0399379; MONDO:0007436","Xref__c":"109493006"},{"URL__c":"https://www.orpha.net/en/disease/detail/99789","Source__c":"C0399379; MONDO:0007436; ORPHA:99789","Xref__c":"ORPHA:99789"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538215","Source__c":"MONDO:0007436","Xref__c":"C538215"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007436","Source__c":"GARD:0001807","Xref__c":"MONDO:0007436"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS125400","Source__c":"MONDO:0007436","Xref__c":"OMIMPS:125400"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SMOC2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Odontology","Pediatrics"]},"synonyms":["dd-i"," dentin dysplasia, type 1"," dentin dysplasia, type i"," dentin dysplasia, type i, with microdontia and misshapen teeth"," dentine dysplasia - shield's type i"," dtdp1"," radicular dentin dysplasia"," radicular dentine dysplasia"," rootless teeth"]}