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Metadata
ID DOID:0061313
PURL http://purl.obolibrary.org/obo/DOID_0061313 Copy
Name oocyte/zygote/embryo maturation arrest 11
Definition An oocyte/zygote/embryo maturation arrest that is characterized by reduced or absent fertility and poor embryonic outcomes with assisted reproductive technology and that has_material_basis_in homozygous mutation in the ASTL gene on chromosome 2q11.2.
https://pubmed.ncbi.nlm.nih.gov/34704130/
Xrefs

MIM:619643

Synonyms

oocyte maturation defect 11 [EXACT]

OOMD11 [EXACT]

OZEMA11 [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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