Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/270960 http://purl.bioontology.org/ontology/OMIM/270960
Preferred Name	SPERMATOGENIC FAILURE 4
Synonyms	PREGNANCY LOSS, RECURRENT, 4 SPGF4 SPERMATOGENESIS ARREST RPRGL4 AZOOSPERMIA DUE TO PERTURBATIONS OF MEIOSIS AZOOSPERMIA WITH MATURATION ARREST
Type	http://www.w3.org/2002/07/owl#Class

altLabel	PREGNANCY LOSS, RECURRENT, 4 SPGF4 SPERMATOGENESIS ARREST RPRGL4 AZOOSPERMIA DUE TO PERTURBATIONS OF MEIOSIS AZOOSPERMIA WITH MATURATION ARREST See more See less
prefLabel	SPERMATOGENIC FAILURE 4
Gene Symbol	COR1 SYCP3 RPRGL4 SCP3 SPGF4
Scope Statement	Caused by mutation in the synaptonemal complex protein-3 gene (SYCP3, 604759.0001) [MOLECULAR BASIS] Affected males are infertile, whereas affected females have recurrent pregnancy loss [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU032628 http://purl.bioontology.org/ontology/OMIM/MTHU032630 http://purl.bioontology.org/ontology/OMIM/MTHU037275 http://purl.bioontology.org/ontology/OMIM/MTHU032629
tui	T046 T033
Gene Locus	12q23
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	270960
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T046 http://purl.bioontology.org/ontology/STY/T033
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3279437 C0232981
OMIM Entry Type	3
OMIM MimType Value	pound

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