Failure of tooth eruption, primary

Preferred Label : Failure of tooth eruption, primary;

Symbol : PFE;

CISMeF acronym : PFE;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Primary retention of teeth; Posterior openbite malocclusion, familial; Dental noneruption; Unerupted second primary molar; Primary failure of tooth eruption, nonsyndromic;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the parathyroid hormone receptor-1 gene (PTHR1, 168468.0012);

Prefixed ID : #125350;

Details

Origin ID

125350;

UMLS CUI

C1852222;

Currated CISMeF NLP mapping
- Primary failure of tooth eruption [ORDO Disease]
- Primary failure of tooth eruption (disorder) [SNOMED CT concept]
- failure of tooth eruption, primary [MeSH concept]
- failure of tooth eruption, primary [MeSH Supplementary Concept]
- primary failure of tooth eruption [DO Concept]
DO Cross reference
- primary failure of tooth eruption [DO Concept]
False automatic mappings
- Cetuximab/Cisplatin/Fluorouracil Regimen [NCIt concept]
Genes related to phenotype
- Parathyroid hormone 1 receptor [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Failure of eruption of permanent teeth [HPO term]
- Hypodontia [HPO term]
- Persistence of primary teeth [HPO term]
ORDO concept(s)
- Primary failure of tooth eruption [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Primary failure of tooth eruption [ORDO Disease]
- Primary failure of tooth eruption (disorder) [SNOMED CT concept]
- failure of tooth eruption, primary [MeSH Supplementary Concept]
- failure of tooth eruption, primary [MeSH concept]
- primary failure of tooth eruption [DO Concept]

Keyword's position in hierarchy(ies) :

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