Premature ovarian failure 10

Preferred Label : Premature ovarian failure 10;

Symbol : POF10;

CISMeF acronym : MENOQ3; POF10;

Type : Phenotype, molecular basis known;

Included titles and symbols : Menopause, natural, age at, quantitative trait locus 3; MENOQ3;

Description : For a discussion of the genetic heterogeneity in age at natural menopause, see MENOQ1 (300488).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the minichromosome maintenance complex component-8 gene (MCM8, 608187.0001);

Prefixed ID : #612885;

Details

Origin ID

612885;

UMLS CUI

C4225402;

Automatic exact mappings (from CISMeF team)
- MCM8 wt Allele [NCIt concept]
Genes related to phenotype
- Minichromosome maintenance complex component 8 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Azoospermia [HPO term]
- Decreased testicular size [HPO term]
- Elevated circulating follicle stimulating hormone level [HPO term]
- Elevated circulating luteinizing hormone level [HPO term]
- Hypoplasia of the ovary [HPO term]
- Hypothyroidism [HPO term]
- Premature ovarian insufficiency [HPO term]
- Primary amenorrhea [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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