Premature ovarian failure 11

Preferred Label : Premature ovarian failure 11;

Symbol : POF11;

CISMeF acronym : POF11;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the excision repair cross-complementing group-6 gene (ERCC6, 609413.0016);

Prefixed ID : #616946;

Détails

Origin ID

616946;

UMLS CUI

C4310783;

Genes related to phenotype
- Ercc excision repair 6, chromatin remodeling factor [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Elevated circulating follicle stimulating hormone level [HPO term]
- Oligomenorrhea [HPO term]
- Secondary amenorrhea [HPO term]
- Young adult onset [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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