Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620196 http://purl.bioontology.org/ontology/OMIM/620196
Preferred Name	SPERMATOGENIC FAILURE 79
Synonyms	SPGF79
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SPGF79
prefLabel	SPERMATOGENIC FAILURE 79
Gene Symbol	KCNU1 SPGF79 SLO3
Scope Statement	Caused by mutation in the potassium channel, subfamily U, member-1 gene (KCNU1, 615215.0001) [MOLECULAR BASIS] Based on a report of 3 unrelated infertile Chinese men (last curated January 2023) [MISCELLANEOUS] Infertility can be rescued by intracytoplasmic sperm injection [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU076443 http://purl.bioontology.org/ontology/OMIM/MTHU076440 http://purl.bioontology.org/ontology/OMIM/MTHU076442 http://purl.bioontology.org/ontology/OMIM/MTHU076441 http://purl.bioontology.org/ontology/OMIM/MTHU006969 http://purl.bioontology.org/ontology/OMIM/MTHU076445 http://purl.bioontology.org/ontology/OMIM/MTHU076444 http://purl.bioontology.org/ontology/OMIM/MTHU076439 See more See less
tui	T047
Gene Locus	8p11.23
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620196
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5774290
OMIM Entry Type	3
OMIM MimType Value	pound

Delete	Subject	Author	Type	Created
No notes to display