| Metadata | |
|---|---|
| ID | DOID:0111341 |
| Name | primary failure of tooth eruption |
| Definition | A tooth disease characterized by incomplete tooth eruption despite the presence of a clear eruption pathway that has_material_basis_in heterozygous mutation in the PTHR1 gene on chromosome 3p21.31. https://www.ncbi.nlm.nih.gov/pubmed/19061984, https://www.ncbi.nlm.nih.gov/pubmed/29544499 |
| Xrefs |
SNOMEDCT_US_2023_03_01:1231153007 |
| Subsets |
DO_rare_slim |
| Synonyms |
dental noneruption [EXACT] familial posterior openbite malocclusion [EXACT] nonsyndromic primary failure of eruption [EXACT] PFE [EXACT] primary retention of teeth [EXACT] unerupted second primary molar [EXACT] |
| Parent Relationships |
is_a tooth disease |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |