Oocyte/zygote/embryo maturation arrest 6

Preferred Label : Oocyte/zygote/embryo maturation arrest 6;

Symbol : OZEMA6;

CISMeF acronym : OOMD6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : OOMD6; Oocyte maturation defect 6;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the zona pellucida glycoprotein-2 gene (ZP2, 182888.0001);

Prefixed ID : #618353;

Details

Origin ID

618353;

UMLS CUI

C5193047;

Genes related to phenotype
- Zona pellucida glycoprotein 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Female infertility [HPO term]
- Thin zona pellucida [HPO term]
ORDO concept(s)
- Female infertility due to zona pellucida defect [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Female infertility due to zona pellucida defect [ORDO Disease]

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