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Oocyte/zygote/embryo maturation arrest 21(OZEMA21)

MedGen UID:
1845812
•Concept ID:
C5882722
•
Disease or Syndrome
Synonym: OZEMA21
 
Gene (location): CHEK1 (11q24.2)
 
Monarch Initiative: MONDO:0957961
OMIM®: 620610

Definition

Oocyte/zygote/embryo maturation arrest-21 (OZEMA21) is characterized by female infertility caused by zygote arrest due to pronuclei fusion failure (Zhang et al., 2021). For a discussion of genetic heterogeneity of OZEMA, see 615774. [from OMIM]

Clinical features

From HPO
Female infertility
MedGen UID:
5795
•Concept ID:
C0021361
•
Pathologic Function
Infertility in a woman.
See: Feature record | Search on this feature
Zygotic cleavage failure
MedGen UID:
1741839
•Concept ID:
C5436598
•
Cell or Molecular Dysfunction
Failure of a fertilized oocyte to undergo the first round of cell division.
See: Feature record | Search on this feature
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    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PubMed (OMIM)
      Related literature resources in PubMed

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