Premature ovarian failure 13

Preferred Label : Premature ovarian failure 13;

Symbol : POF13;

CISMeF acronym : POF13;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mutS homolog 5 gene (MSH5, 603382.0001);

Prefixed ID : #617442;

Details

Origin ID

617442;

UMLS CUI

C4479510;

Automatic exact mappings (from CISMeF team)
- MSH5 wt Allele [NCIt concept]
Genes related to phenotype
- Muts homolog 5 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Oligomenorrhea [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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