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Disease Ontology Browser
oocyte/zygote/embryo maturation arrest 4 (DOID:0061306)
Alliance: disease page
Synonyms: female infertility due to oocyte meiotic arrest.; oocyte maturation defect 4; OOMD4; OZEMA4
Alt IDs: OMIM:617743, ORDO:488191, UMLS_CUI:C5567489
Definition: An oocyte/zygote/embryo maturation arrest that is characterized by phenotypic variability, with some oocytes exhibiting maturation arrest at the germinal vesicle stage and others at the metaphase I stage. In some patients, a few oocytes progress to polar body I; those oocytes either undergo fertilization failure or, in those that are fertilized, early embryonic arrest and that has_material_basis_in homozygous or compound heterozygous mutation in the PATL2 gene on chromosome 15q21.1.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
09/08/2026
MGI 6.24
The Jackson Laboratory