Premature ovarian failure 16

Preferred Label : Premature ovarian failure 16;

Symbol : POF16;

CISMeF acronym : POF16;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the basonuclin-1 gene (BNC1, 601930.0001);

Prefixed ID : #618723;

Details

Origin ID

618723;

UMLS CUI

C5231474;

Genes related to phenotype
- Basonuclin 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Decreased serum estradiol [HPO term]
- Elevated circulating follicle stimulating hormone level [HPO term]
- Premature ovarian insufficiency [HPO term]
- Reduced antral follicle count [HPO term]
ORDO concept(s)
- 46,XX gonadal dysgenesis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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