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Metadata
ID DOID:0061310
PURL http://purl.obolibrary.org/obo/DOID_0061310 Copy
Name oocyte/zygote/embryo maturation arrest 8
Definition An oocyte/zygote/embryo maturation arrest that is characterized by female infertility due to failure of the fertilized ovum to undergo zygotic cleavage and that has_material_basis_in homozygous mutation in the BTG4 gene on chromosome 11q23.1.
https://pubmed.ncbi.nlm.nih.gov/32502391/
Xrefs

MIM:619009

ORDO:488191

UMLS_CUI:C5567489

SKOS

narrowMatch UMLS_CUI:C5567489

narrowMatch ORDO:488191

Synonyms

female infertility due to oocyte meiotic arrest [NARROW]

oocyte maturation defect 8 [EXACT]

OOMD8 [EXACT]

OZEMA8 [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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