Premature ovarian failure 6

Preferred Label : Premature ovarian failure 6;

Symbol : POF6;

CISMeF acronym : POF6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the folliculogenesis specific bHLH transcription factor gene (FIGLA, 608697.0001);

Prefixed ID : #612310;

Details

Origin ID

612310;

UMLS CUI

C2676742;

Broader ORDO disease(s)
- Primary ovarian failure [ORDO Disease]
Currated CISMeF NLP mapping
- premature ovarian failure 6 [MeSH concept]
- premature ovarian failure 6 [MeSH Supplementary Concept]
DO Cross reference
- primary ovarian insufficiency [DO Concept]
Genes related to phenotype
- Folliculogenesis-specific bhlh transcription factor [OMIM gene]
HPO term(s)
- Elevated circulating follicle stimulating hormone level [HPO term]
- Elevated circulating luteinizing hormone level [HPO term]
- Female infertility [HPO term]
- Hypoplasia of the uterus [HPO term]
- Premature ovarian insufficiency [HPO term]
- Primary amenorrhea [HPO term]
- Secondary amenorrhea [HPO term]
- Sex-limited autosomal dominant [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 6 [MeSH Supplementary Concept]
- premature ovarian failure 6 [MeSH concept]

Keyword's position in hierarchy(ies) :

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