oocyte/zygote/embryo maturation arrest 4

Term ID

DOID:0061306

Synonyms

• female infertility due to oocyte meiotic arrest.
• oocyte maturation defect 4
• OOMD4
• OZEMA4

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. https://pubmed.ncbi.nlm.nih.gov/28965849/

References

• MIM:617743
• ORDO:488191
• UMLS_CUI:C5567489

Ontology

Human Disease   ( DOID:0061306 )