{"Name":"Dentin dysplasia type II","DiseaseID__c":"GARD:0001806","id":1806,"encodedName":"dentin-dysplasia-type-ii","IsDeleted":false,"Disease_Name_Full__c":"Dentin dysplasia type II","Xref_IDs__c":"109494000; C0399380; MEDGEN:96026; MONDO:0007437; OMIM:125420; ORPHA:99791","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0007437","Disease_Description__c":"Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD, see this term) characterized by normal tooth roots but abnormal primary dentition.","GARD_Name__c":"Dentin dysplasia type II","GARD_Synonym__c":"anomalous dysplasia of dentin; anomalous dysplasia of dentine; coronal dentine dysplasia; dd-ii; dentin dysplasia, shields type ii; dentin dysplasia, type ii; dentine dysplasia - shield's type ii; dtdp2; pulpal dysplasia","Curated_Disease_Description_Source__c":"MONDO:0007437","Curated_Disease_Description__c":"Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD) characterized by normal tooth roots but abnormal primary dentition.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:99791","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007437","ORPHANET_ID__c":"ORPHA:99791","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia de la dentina tipo 2","Spanish_Description_Source__c":"ORPHA:99791","Spanish_Description__c":"La displasia de la dentina tipo II (DD-II) es una forma leve, poco frecuente, de la displasia de la dentina (DD; ver este término) caracterizada por dientes con raíces normales pero con una dentición primaria anómala.","Spanish_Disease_Name__c":"displasia de la dentina tipo 2","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 II (DD-II) is a rare mild form of dentin dysplasia (DD) characterized by normal tooth roots but abnormal primary dentition.","Curated_Disease_Description_Source__c":"MONDO:0007437","GARD_Synonym__c":"anomalous dysplasia of dentin; anomalous dysplasia of dentine; coronal dentine dysplasia; dd-ii; dentin dysplasia, shields type ii; dentin dysplasia, type ii; dentine dysplasia - shield's type ii; dtdp2; pulpal dysplasia","Name":"Dentin dysplasia type II","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"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001806","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/125420","Source__c":"C0399380; MONDO:0007437; ORPHA:99791","Xref__c":"OMIM:125420"},{"URL__c":"https://www.orpha.net/en/disease/detail/99791","Source__c":"MONDO:0007437","Xref__c":"ORPHA:99791"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=109494000","Source__c":"C0399380; MONDO:0007437","Xref__c":"109494000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007437","Source__c":"GARD:0001806","Xref__c":"MONDO:0007437"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=96026","Source__c":"C0399380","Xref__c":"MEDGEN:96026"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0399380","Source__c":"C0399380","Xref__c":"C0399380"}],"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:125420","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A thistle tube shape of the pulp chamber, meaning an enlarged coronal pulp chamber with narrow pulp canals giving a radiographic appearance of the shape of a thistle tube or a flame. It may occur isolated or associated with other dental anomalies and rare diseases such as dentinogenesis imperfecta, which should be assessed and coded separately. The diagnosis thistle tube shape pulp requires clinical and radiographic examinations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033790","HPO_Synonym__c":"Flame-shaped pulp","HPO_Name__c":"Thistle tube shaped pulp","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:125420","Feature__r":{"HPO_Description__c":"Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003771","HPO_Synonym__c":"Pulp calcifications; Pulp denticles; Pulp stones; Pulpoliths","HPO_Name__c":"Pulp calcification","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:125420","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Odontology"]},"synonyms":["anomalous dysplasia of dentin"," anomalous dysplasia of dentine"," coronal dentine dysplasia"," dd-ii"," dentin dysplasia, shields type ii"," dentin dysplasia, type ii"," dentine dysplasia - shield's type ii"," dtdp2"," pulpal dysplasia"]}