Premature ovarian failure 2b

Preferred Label : Premature ovarian failure 2b;

Symbol : POF2B;

CISMeF acronym : POF2B;

Type : Phenotype, molecular basis known;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the POF1B gene (POF1B, 300603.0001);

Laboratory abnormalities : Low estradiol level; Elevated follicular-stimulating hormone (FSH) level;

Prefixed ID : #300604;

Details

Origin ID

300604;

UMLS CUI

C1845105;

Broader ORDO disease(s)
- Primary ovarian failure [ORDO Disease]
Currated CISMeF NLP mapping
- premature ovarian failure 2b [MeSH concept]
- premature ovarian failure 2b [MeSH Supplementary Concept]
DO Cross reference
- primary ovarian insufficiency [DO Concept]
Genes related to phenotype
- Pof1b actin-binding protein [OMIM gene]
HPO term(s)
- Abnormality of the dentition [HPO term]
- Delayed puberty [HPO term]
- Osteoporosis [HPO term]
- Premature ovarian insufficiency [HPO term]
- Primary amenorrhea [HPO term]
- Tall stature [HPO term]
- X-linked recessive 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 2b [MeSH Supplementary Concept]
- premature ovarian failure 2b [MeSH concept]

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