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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618643
http://purl.bioontology.org/ontology/OMIM/618643
|
|---|---|
| Preferred Name | SPERMATOGENIC FAILURE 39 |
| Synonyms |
SPGF39
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | SPGF39
|
|---|---|
| prefLabel | SPERMATOGENIC FAILURE 39
|
| Gene Symbol |
DNEL2
DNAH17
SPGF39
|
| Scope Statement | Infertile men with loss-of-function mutations exhibit multiple morphologic abnormalities of the flagella (MMAF) [MISCELLANEOUS]
Caused by mutation in the axonemal dynein, heavy chain-17 gene (DNAH17, 610063.0001) [MOLECULAR BASIS]
Infertile men with hypomorphic mutations show absence of MTDs 4 to 7 at flagellar principal and end pieces [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 17q25
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618643
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5231438
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |