Premature ovarian failure 2a

Preferred Label : Premature ovarian failure 2a;

Symbol : POF2A;

CISMeF acronym : POF2A;

Type : Phenotype, molecular basis known;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the diaphanous-related formin 2 gene (DIAPH2, 300108.0001);

Prefixed ID : #300511;

Details

Origin ID

300511;

UMLS CUI

C1845293;

Broader ORDO disease(s)
- Primary ovarian failure [ORDO Disease]
Currated CISMeF NLP mapping
- premature ovarian failure 2a [MeSH concept]
- premature ovarian failure 2a [MeSH Supplementary Concept]
DO Cross reference
- primary ovarian insufficiency [DO Concept]
Genes related to phenotype
- Diaphanous-related formin 2 [OMIM gene]
HPO term(s)
- Premature ovarian insufficiency [HPO term]
- Secondary amenorrhea [HPO term]
- X-linked dominant inheritance [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 2a [MeSH Supplementary Concept]
- premature ovarian failure 2a [MeSH concept]

Keyword's position in hierarchy(ies) :

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