| Metadata | |
|---|---|
| ID | DOID:0061325 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061325 Copy |
| Name | oocyte/zygote/embryo maturation arrest 23 |
| Definition | An oocyte/zygote/embryo maturation arrest that is characterized by female infertility due to developmental arrest. Oocytes can be fertilized, but maturation fails at the oocyte, zygote, or embryo stage and that has_material_basis_in heterozygous or homozygous mutation in the TUBA4A gene on chromosome 2q35. https://pubmed.ncbi.nlm.nih.gov/39872894/, https://pubmed.ncbi.nlm.nih.gov/37024973/ |
| Xrefs | |
| Synonyms |
OZEMA23 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance |