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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

MESH:C565114

OMIM:125350

ORDO:412206

SNOMEDCT_US_2023_03_01:1231153007

UMLS_CUI:C1852222

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

is_a autosomal dominant disease

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