Premature ovarian failure 7

Preferred Label : Premature ovarian failure 7;

Symbol : POF7;

CISMeF acronym : POF7;

Type : Phenotype, molecular basis known;

Included titles and symbols : Adrenal insufficiency, nr5a1-related;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the nuclear receptor subfamily 5, group A, member-1 gene (NR5A1, 184757.0011);

Prefixed ID : #612964;

Détails

Origin ID

612964;

UMLS CUI

C2751825;

Currated CISMeF NLP mapping
- premature ovarian failure 7 [MeSH concept]
- premature ovarian failure 7 [MeSH Supplementary Concept]
DO Cross reference
- primary ovarian insufficiency [DO Concept]
Genes related to phenotype
- Nuclear receptor subfamily 5, group a, member 1 [OMIM gene]
HPO term(s)
- Absent pubic hair [HPO term]
- Clitoral hypertrophy [HPO term]
- Elevated circulating follicle stimulating hormone level [HPO term]
- Elevated circulating luteinizing hormone level [HPO term]
- Gonadal dysgenesis [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]
ORDO concept(s)
- Primary ovarian failure [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- premature ovarian failure 7 [MeSH Supplementary Concept]
- premature ovarian failure 7 [MeSH concept]

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

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