{"Name":"Primary failure of tooth eruption","DiseaseID__c":"GARD:0017692","id":17692,"encodedName":"primary-failure-of-tooth-eruption","IsDeleted":false,"Disease_Name_Full__c":"Primary failure of tooth eruption","Xref_IDs__c":"1231153007; C1852222; C565114; DOID:0111341; MEDGEN:338882; MONDO:0007434; OMIM:125350; ORPHA:412206","USA_Estimate__c":null,"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":null,"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":"ORPHA:412206","Disease_Description__c":"A rare genetic odontologic disease characterized by failure of eruption of non-ankylosed permanent teeth without evidence of obvious mechanical obstruction. Posterior teeth are preferentially affected (typically with involvement of all teeth distal to the most mesial non-erupted tooth), resulting in a posterior open bite. Non-ankylosed teeth tend to become ankylosed, and orthodontic treatment of affected teeth is generally unsuccessful.","GARD_Name__c":"Primary failure of tooth eruption","GARD_Synonym__c":"dental noneruption; pfe; pfe - primary failure of tooth eruption; posterior openbite malocclusion, familial; primary retention of teeth; unerupted second primary molar","Curated_Disease_Description_Source__c":"ORPHA:412206","Curated_Disease_Description__c":"A rare genetic odontologic disease characterized by failure of eruption of non-ankylosed permanent teeth without evidence of obvious mechanical obstruction. Posterior teeth are preferentially affected (typically with involvement of all teeth distal to the most mesial non-erupted tooth), resulting in a posterior open bite. Non-ankylosed teeth tend to become ankylosed, and orthodontic treatment of affected teeth is generally unsuccessful.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:412206","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007434","ORPHANET_ID__c":"ORPHA:412206","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Fracaso primario de la erupción dentaria","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"fracaso primario de la erupción dentaria","Spanish_GARD_Synonym__c":"pfe; retención primaria de los dientes","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":"A rare genetic odontologic disease characterized by failure of eruption of non-ankylosed permanent teeth without evidence of obvious mechanical obstruction. Posterior teeth are preferentially affected (typically with involvement of all teeth distal to the most mesial non-erupted tooth), resulting in a posterior open bite. Non-ankylosed teeth tend to become ankylosed, and orthodontic treatment of affected teeth is generally unsuccessful.","Curated_Disease_Description_Source__c":"ORPHA:412206","GARD_Synonym__c":"dental noneruption; pfe; pfe - primary failure of tooth eruption; posterior openbite malocclusion, familial; primary retention of teeth; unerupted second primary molar","Name":"Primary failure of tooth eruption","estimateUsa":""}],"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://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111341","Source__c":"MONDO:0007434","Xref__c":"DOID:0111341"},{"URL__c":"https://www.omim.org/entry/125350","Source__c":"C1852222; MONDO:0007434; ORPHA:412206","Xref__c":"OMIM:125350"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1852222","Source__c":"C1852222","Xref__c":"C1852222"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565114","Source__c":"MONDO:0007434","Xref__c":"C565114"},{"URL__c":"https://www.orpha.net/en/disease/detail/412206","Source__c":"C1852222; MONDO:0007434; ORPHA:412206","Xref__c":"ORPHA:412206"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=338882","Source__c":"C1852222","Xref__c":"MEDGEN:338882"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1231153007","Source__c":"C1852222","Xref__c":"1231153007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007434","Source__c":"GARD:0017692","Xref__c":"MONDO:0007434"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PTH1R","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:125350","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":"OMIM:125350","Feature__r":{"HPO_Description__c":"Lack of tooth eruption of the secondary dentition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006352","HPO_Synonym__c":"Failure of eruption of adult teeth","HPO_Name__c":"Failure of eruption of permanent teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:125350","Feature__r":{"HPO_Description__c":"The absence of five or less teeth from the normal series by a failure to develop.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000668","HPO_Synonym__c":"Failure of development of between one and six teeth","HPO_Name__c":"Hypodontia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Odontology"]},"synonyms":["dental noneruption"," pfe"," pfe - primary failure of tooth eruption"," posterior openbite malocclusion, familial"," primary retention of teeth"," unerupted second primary molar"]}