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Oocyte/zygote/embryo maturation arrest 18(OZEMA18)

MedGen UID:
1841077
•Concept ID:
C5830441
•
Disease or Syndrome
Synonym: OZEMA18
 
Gene (location): NLRP2 (19q13.42)
 
Monarch Initiative: MONDO:0957230
OMIM®: 620332

Definition

Oocyte/zygote/embryo maturation arrest-18 (OZEMA18) is characterized by female infertility due to early embryonic arrest. Most oocytes can be fertilized and begin cleavage, but very few viable embryos are obtained and most fail to establish pregnancy (Mu et al., 2019). 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

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    • ClinVar
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    • Gene
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    • 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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