Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/617749 http://purl.bioontology.org/ontology/OMIM/617749
Preferred Name	ACTN3 DEFICIENCY
Synonyms	SPRINTING PERFORMANCE ALPHA-ACTININ-3 DEFICIENCY
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SPRINTING PERFORMANCE ALPHA-ACTININ-3 DEFICIENCY
prefLabel	ACTN3 DEFICIENCY
Gene Symbol	ACTN3 ACTN3D
Scope Statement	Caused by mutation in the actinin, alpha-3 gene (ACTN3, 102574.0001) [MOLECULAR BASIS] Decreased representation of null allele among sprinters and power athletes [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU073901 http://purl.bioontology.org/ontology/OMIM/MTHU073902 http://purl.bioontology.org/ontology/OMIM/MTHU073900
tui	T032 T047
Gene Locus	11q13-q14
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	617749
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047 http://purl.bioontology.org/ontology/STY/T032
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3888204 C3888203
OMIM Entry Type	3
OMIM MimType Value	pound

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