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Metadata
ID DOID:0061320
PURL http://purl.obolibrary.org/obo/DOID_0061320 Copy
Name oocyte/zygote/embryo maturation arrest 18
Definition An oocyte/zygote/embryo maturation arrest that 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 and that has_material_basis_in homozygous or compound heterozygous mutation in the NLRP2 gene on chromosome 19q13.42.
https://pubmed.ncbi.nlm.nih.gov/30877238/
Xrefs

MIM:620332

ORDO:488191

UMLS_CUI:C5567489

SKOS

narrowMatch UMLS_CUI:C5567489

narrowMatch ORDO:488191

Synonyms

female infertility due to oocyte meiotic arrest [NARROW]

OZEMA18 [EXACT]

Parent Relationships

is_a oocyte/zygote/embryo maturation arrest

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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