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loading...| Preferred Name |
SPERMATOGENIC FAILURE 6 |
| Synonyms |
ROUND-HEADED SPERMATOZOA |
| ID |
http://purl.bioontology.org/ontology/OMIM/102530 |
| altLabel |
ROUND-HEADED SPERMATOZOA ACROSOME MALFORMATION OF SPERMATOZOA SPGF6 GLOBOZOOSPERMIA SPERMATOZOA, ROUND-HEADED |
| cui |
C4225503 C0403825 |
| Gene Locus |
3q26.3 |
| Gene Symbol |
SPGF6 SPATA16 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU048314 http://purl.bioontology.org/ontology/OMIM/MTHU006969 http://purl.bioontology.org/ontology/OMIM/MTHU048313 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
102530 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
SPERMATOGENIC FAILURE 6 |
| Scope Statement |
One Ashkenazi Jewish family with globozoospermia and SPATA16 mutation has been described (last curated April 2015) [MISCELLANEOUS] Caused by mutation in the spermatogenesis-associated protein 16 gene (SPATA16, 609856.0001) [MOLECULAR BASIS] |
| tui |
T033 T047 |
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