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Metadata
ID DOID:0061307
PURL http://purl.obolibrary.org/obo/DOID_0061307 Copy
Name oocyte/zygote/embryo maturation arrest 5
Definition An oocyte/zygote/embryo maturation arrest that is characterized by female infertility due to inability of the oocyte to exit metaphase II, resulting in fertilization failure and that has_material_basis_in homozygous or compound heterozygous mutation in the WEE2 gene on chromosome 7q34.
https://pubmed.ncbi.nlm.nih.gov/29606300/
Xrefs

MIM:617996

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 5 [EXACT]

OOMD5 [EXACT]

OZEMA5 [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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