Premature ovarian failure 14

Preferred Label : Premature ovarian failure 14;

Symbol : POF14;

CISMeF acronym : POF14;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the growth/differentiation factor-9 gene (GDF9, 601918.0001);

Prefixed ID : #618014;

Details

Origin ID

618014;

UMLS CUI

C4693941;

Genes related to phenotype
- Growth/differentiation factor 9 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Elevated circulating follicle stimulating hormone level [HPO term]
- Elevated circulating luteinizing hormone level [HPO term]
- Primary amenorrhea [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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