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Metadata
ID DOID:0061314
PURL http://purl.obolibrary.org/obo/DOID_0061314 Copy
Name oocyte/zygote/embryo maturation arrest 12
Definition An oocyte/zygote/embryo maturation arrest that is characterized by female infertility due to early embryonic arrest and that has_material_basis_in homozygous mutation in the FBXO43 gene on chromosome 8q22.2.
https://pubmed.ncbi.nlm.nih.gov/34052850/
Xrefs

MIM:619697

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 12 [EXACT]

OOMD12 [EXACT]

OZEMA12 [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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