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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616780
http://purl.bioontology.org/ontology/OMIM/616780
|
|---|---|
| Preferred Name | OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 2 |
| Synonyms |
OZEMA2
OOMD2
OOCYTE MATURATION DEFECT 2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
OZEMA2
OOMD2
OOCYTE MATURATION DEFECT 2
|
|---|---|
| prefLabel | OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 2
|
| Gene Symbol |
OZEMA2
TUBB8
|
| Scope Statement | Cause by mutation in the beta-8 tubulin gene (TUBB8, 616768.0001) [MOLECULAR BASIS]
Carrier males are fertile [MISCELLANEOUS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 10p15.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 616780
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4225210
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |