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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620277
http://purl.bioontology.org/ontology/OMIM/620277
|
|---|---|
| Preferred Name | SPERMATOGENIC FAILURE 81 |
| Synonyms |
SPGF81
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | SPGF81
|
|---|---|
| prefLabel | SPERMATOGENIC FAILURE 81
|
| Gene Symbol |
TEKT3
SPGF81
|
| Scope Statement | Based on report of 2 unrelated infertile Han Chinese men (last curated March 2023) [MISCELLANEOUS]
Caused by mutation in the tektin-3 gene (TEKT3, 612683.0001) [MOLECULAR BASIS]
Successful pregnancy achieved with intracytoplasmic sperm injection [MISCELLANEOUS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 17p12
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620277
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5830329
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |