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Metadata
ID DOID:0061316
PURL http://purl.obolibrary.org/obo/DOID_0061316 Copy
Name oocyte/zygote/embryo maturation arrest 14
Definition An oocyte/zygote/embryo maturation arrest that is characterized by female infertility due to oocyte maturation arrest, fertilization failure, and/or early embryonic arrest and that has_material_basis_in homozygous or compound heterozygous mutation in the CDC20 gene on chromosome 1p34.2.
https://pubmed.ncbi.nlm.nih.gov/33898437/, https://pubmed.ncbi.nlm.nih.gov/33683667/, https://pubmed.ncbi.nlm.nih.gov/32666501/, https://pubmed.ncbi.nlm.nih.gov/34218387/
Xrefs

MIM:620276

Synonyms

oocyte maturation defect 14 [EXACT]

OOMD14 [EXACT]

OZEMA14 [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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