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Metadata
ID DOID:0061323
PURL http://purl.obolibrary.org/obo/DOID_0061323 Copy
Name oocyte/zygote/embryo maturation arrest 21
Definition An oocyte/zygote/embryo maturation arrest that is characterized by female infertility caused by zygote arrest due to pronuclei fusion failure and that has_material_basis_in heterozygous mutation in the CHEK1 gene on chromosome 11q24.2.
https://pubmed.ncbi.nlm.nih.gov/33953335/
Xrefs

MIM:620610

ORDO:488191

UMLS_CUI:C5567489

SKOS

narrowMatch UMLS_CUI:C5567489

narrowMatch ORDO:488191

Synonyms

female infertility due to oocyte meiotic arrest [NARROW]

OZEMA21 [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a oocyte/zygote/embryo maturation arrest

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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