Premature ovarian failure 5

Preferred Label : Premature ovarian failure 5;

Symbol : POF5;

CISMeF acronym : POF5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the NOBOX oogenesis homeobox gene (NOBOX, 610934.0001);

Prefixed ID : #611548;

Details

Origin ID

611548;

UMLS CUI

C1969060;

Broader ORDO disease(s)
- Primary ovarian failure [ORDO Disease]
Currated CISMeF NLP mapping
- premature ovarian failure 5 [MeSH concept]
- premature ovarian failure 5 [MeSH Supplementary Concept]
DO Cross reference
- primary ovarian insufficiency [DO Concept]
Genes related to phenotype
- Nobox oogenesis homeobox [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hypoplasia of the ovary [HPO term]
- Premature ovarian insufficiency [HPO term]
- Primary amenorrhea [HPO term]
- Reduced antral follicle count [HPO term]
- Secondary amenorrhea [HPO term]
- Streak ovary [HPO term]
ORDO concept(s)
- Primary ovarian failure [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- premature ovarian failure 5 [MeSH Supplementary Concept]
- premature ovarian failure 5 [MeSH concept]

Keyword's position in hierarchy(ies) :

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