| Metadata | |
|---|---|
| ID | DOID:0061306 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061306 Copy |
| Name | oocyte/zygote/embryo maturation arrest 4 |
| 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/ |
| Xrefs | |
| SKOS |
narrowMatch UMLS_CUI:C5567489 narrowMatch ORDO:488191 |
| Synonyms |
female infertility due to oocyte meiotic arrest. [NARROW] oocyte maturation defect 4 [EXACT] OOMD4 [EXACT] OZEMA4 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |