Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/125350
http://purl.bioontology.org/ontology/OMIM/125350
Preferred Name

FAILURE OF TOOTH ERUPTION, PRIMARY
Synonyms
DENTAL NONERUPTION
PRIMARY FAILURE OF TOOTH ERUPTION, NONSYNDROMIC
UNERUPTED SECOND PRIMARY MOLAR
PFE
POSTERIOR OPENBITE MALOCCLUSION, FAMILIAL
PRIMARY RETENTION OF TEETH
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
DENTAL NONERUPTION
PRIMARY FAILURE OF TOOTH ERUPTION, NONSYNDROMIC
UNERUPTED SECOND PRIMARY MOLAR
PFE
POSTERIOR OPENBITE MALOCCLUSION, FAMILIAL
PRIMARY RETENTION OF TEETH
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prefLabel
FAILURE OF TOOTH ERUPTION, PRIMARY
Gene Symbol
PFE
PTH1R
PTHR1
PTHR
EKNS
notation
125350
Scope Statement
Caused by mutation in the parathyroid hormone receptor-1 gene (PTHR1, 168468.0012) [MOLECULAR BASIS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
type
Has manifestation
MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
3p22-p21.1
tui
T047
cui
C1852222
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