Oocyte/zygote/embryo maturation arrest 9

Preferred Label : Oocyte/zygote/embryo maturation arrest 9;

Symbol : OZEMA9;

CISMeF acronym : OOMD9;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Oocyte maturation defect 9; OOMD9;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the thyroid hormone receptor interactor-13 gene (TRIP13, 604507.0003);

Prefixed ID : #619011;

Details

Origin ID

619011;

UMLS CUI

C5436599;

Genes related to phenotype
- Thyroid hormone receptor interactor 13 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Female infertility [HPO term]
- Oocyte arrest at metaphase I [HPO term]
- Zygotic cleavage failure [HPO term]
Not associated HPO term(s)
- Abnormality of the menstrual cycle [HPO term]
ORDO concept(s)
- Female infertility due to oocyte meiotic arrest [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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