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Metadata
ID DOID:0061324
PURL http://purl.obolibrary.org/obo/DOID_0061324 Copy
Name oocyte/zygote/embryo maturation arrest 22
Definition An oocyte/zygote/embryo maturation arrest that is characterized by female infertility due to oocyte maturation arrest, primarily at the germinal vesicle or metaphase I stages and that has_material_basis_in homozygous or compound heterozygous mutation in the PABPC1L gene on chromosome 20q13.12.
https://pubmed.ncbi.nlm.nih.gov/37723834/, https://pubmed.ncbi.nlm.nih.gov/38177974/, https://pubmed.ncbi.nlm.nih.gov/37052235/
Xrefs

MIM:621093

Synonyms

OZEMA22 [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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