Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618112 http://purl.bioontology.org/ontology/OMIM/618112
Preferred Name	SPERMATOGENIC FAILURE 31
Synonyms	SPGF31
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SPGF31
prefLabel	SPERMATOGENIC FAILURE 31
Gene Symbol	PMFBP1 SPGF31 STAP
Scope Statement	Infertility may be overcome by intracytoplasmic sperm injection [MISCELLANEOUS] Caused by mutation in the polyamine-modulated factor 1-binding protein-1 gene (PMFBP1, 618085.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU040914 http://purl.bioontology.org/ontology/OMIM/MTHU062423 http://purl.bioontology.org/ontology/OMIM/MTHU062424 http://purl.bioontology.org/ontology/OMIM/MTHU062421 http://purl.bioontology.org/ontology/OMIM/MTHU070551
tui	T047
Gene Locus	16q22.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618112
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4748234
OMIM Entry Type	3
OMIM MimType Value	pound

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