| Metadata | |
|---|---|
| ID | DOID:0061304 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061304 Copy |
| Name | oocyte/zygote/embryo maturation arrest 2 |
| Definition | An oocyte/zygote/embryo maturation arrest that is characterized by female infertility due to oocyte maturation arrest with various meiotic spindle defects and that has_material_basis_in heterozygous or homozygous mutation in the TUBB8 gene on chromosome 10p15.3. https://pubmed.ncbi.nlm.nih.gov/27273344/ |
| Xrefs | |
| SKOS |
narrowMatch UMLS_CUI:C5567489 narrowMatch ORDO:488191 |
| Synonyms |
female infertility due to oocyte meiotic arrest. [NARROW] oocyte maturation defect 2 [EXACT] OOMD2 [EXACT] OZEMA2 [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 |