Premature ovarian failure 3

Preferred Label : Premature ovarian failure 3;

Symbol : POF3;

CISMeF acronym : POF3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the forkhead transcription factor FOXL2 gene (FOXL2, 605597.0016);

Prefixed ID : #608996;

Details

Origin ID

608996;

UMLS CUI

C1837008;

Broader ORDO disease(s)
- Primary ovarian failure [ORDO Disease]
Currated CISMeF NLP mapping
- premature ovarian failure 3 [MeSH concept]
- premature ovarian failure 3 [MeSH Supplementary Concept]
DO Cross reference
- primary ovarian insufficiency [DO Concept]
Genes related to phenotype
- Forkhead transcription factor foxl2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hypoplasia of the uterus [HPO term]
- Premature ovarian insufficiency [HPO term]
- Secondary amenorrhea [HPO term]
ORDO concept(s)
- Primary ovarian failure [ORDO Disease]
See also inter- (CISMeF)
- FOXL2 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- premature ovarian failure 3 [MeSH Supplementary Concept]
- premature ovarian failure 3 [MeSH concept]

Keyword's position in hierarchy(ies) :

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