Oocyte/zygote/embryo maturation arrest 1

Preferred Label : Oocyte/zygote/embryo maturation arrest 1;

Symbol : OZEMA1;

CISMeF acronym : OOMD; OOMD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : OOMD; Oocyte maturation defect 1; OOMD1;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the zona pellucida glycoprotein-1 gene (ZP1, 195000.0001);

Prefixed ID : #615774;

Details

Origin ID

615774;

UMLS CUI

C4014291;

CISMeF manual mappings
- Rare female infertility due to oocyte maturation defect [ORDO Disease]
Genes related to phenotype
- Zona pellucida glycoprotein 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Female infertility [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Female infertility due to zona pellucida defect [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rare female infertility due to oocyte maturation defect [ORDO Disease]

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