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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620353
http://purl.bioontology.org/ontology/OMIM/620353
|
|---|---|
| Preferred Name | SPERMATOGENIC FAILURE 82 |
| Synonyms |
SPGF82
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | SPGF82
|
|---|---|
| prefLabel | SPERMATOGENIC FAILURE 82
|
| Gene Symbol |
FSP95
AKAP110
SPGF82
AKAP3
SOB1
|
| Scope Statement | Caused by mutation in the A-kinase anchor protein-3 gene (AKAP3, 604689.0001) [MOLECULAR BASIS]
Based on report of 2 unrelated Han Chinese men (last curated April 2023) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 12p13.32
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620353
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5830468
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |