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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619696
http://purl.bioontology.org/ontology/OMIM/619696
|
|---|---|
| Preferred Name | SPERMATOGENIC FAILURE 64 |
| Synonyms |
SPGF64
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | SPGF64
|
|---|---|
| prefLabel | SPERMATOGENIC FAILURE 64
|
| Gene Symbol |
EMI2
OZEMA12
FBXO43
ERP1
SPGF64
FBX43
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| Scope Statement | Mutation in the FBXO43 gene can also cause female infertility due to early embryonic arrest (oocyte maturation defect-12, OOMD12, 619697) [MISCELLANEOUS]
Caused by mutation in the F-box only protein-43 gene (FBXO43, 609110.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 8q22.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 619696
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5562062
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |