Online Mendelian Inheritance in Man - CONGENITAL MYOPATHY 13 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/255995 http://purl.bioontology.org/ontology/OMIM/255995
Preferred Name	CONGENITAL MYOPATHY 13
Synonyms	MYPBB NAM MYOPATHY, CONGENITAL, BAILEY-BLOCH NATIVE AMERICAN MYOPATHY CMYO13 MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MYPBB NAM MYOPATHY, CONGENITAL, BAILEY-BLOCH NATIVE AMERICAN MYOPATHY CMYO13 MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA See more See less
prefLabel	CONGENITAL MYOPATHY 13
Gene Symbol	STAC3 CMYO13 NAM
Scope Statement	Caused by mutation in the SH3 and cysteine-rich domains 3 gene (STAC3, 615521.0001) [MOLECULAR BASIS] Onset at birth [MISCELLANEOUS] Increased prevalence among the Native American Lumbee Indians [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU020225 http://purl.bioontology.org/ontology/OMIM/MTHU023120 http://purl.bioontology.org/ontology/OMIM/MTHU000511 http://purl.bioontology.org/ontology/OMIM/MTHU000379 http://purl.bioontology.org/ontology/OMIM/MTHU004403 http://purl.bioontology.org/ontology/OMIM/MTHU010738 http://purl.bioontology.org/ontology/OMIM/MTHU004212 http://purl.bioontology.org/ontology/OMIM/MTHU006937 http://purl.bioontology.org/ontology/OMIM/MTHU000576 http://purl.bioontology.org/ontology/OMIM/MTHU036370 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU061712 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU036357 http://purl.bioontology.org/ontology/OMIM/MTHU000259 http://purl.bioontology.org/ontology/OMIM/MTHU000579 http://purl.bioontology.org/ontology/OMIM/MTHU000088 http://purl.bioontology.org/ontology/OMIM/MTHU002160 http://purl.bioontology.org/ontology/OMIM/MTHU037787 http://purl.bioontology.org/ontology/OMIM/MTHU000509 http://purl.bioontology.org/ontology/OMIM/MTHU003610 http://purl.bioontology.org/ontology/OMIM/MTHU000680 http://purl.bioontology.org/ontology/OMIM/MTHU023119 http://purl.bioontology.org/ontology/OMIM/MTHU003098 http://purl.bioontology.org/ontology/OMIM/MTHU000066 http://purl.bioontology.org/ontology/OMIM/MTHU038981 http://purl.bioontology.org/ontology/OMIM/MTHU001330 http://purl.bioontology.org/ontology/OMIM/MTHU037031 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU001677 http://purl.bioontology.org/ontology/OMIM/MTHU023121 See more See less
tui	T047
Gene Locus	12q13.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	255995
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1850625
OMIM Entry Type	3
OMIM MimType Value	pound

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