Online Mendelian Inheritance in Man - CONGENITAL MYOPATHY 18 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620246 http://purl.bioontology.org/ontology/OMIM/620246
Preferred Name	CONGENITAL MYOPATHY 18
Synonyms	CMYO18 MYOPATHY, CONGENITAL, DUE TO DIHYDROPYRIDINE RECEPTOR DEFECT DHPRM DHPR CONGENITAL MYOPATHY DIHYDROPYRIDINE RECEPTOR CONGENITAL MYOPATHY
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CMYO18 MYOPATHY, CONGENITAL, DUE TO DIHYDROPYRIDINE RECEPTOR DEFECT DHPRM DHPR CONGENITAL MYOPATHY DIHYDROPYRIDINE RECEPTOR CONGENITAL MYOPATHY
prefLabel	CONGENITAL MYOPATHY 18
Gene Symbol	CACNA1S CMYO18 TTPP1 MHS5 CCHL1A3 CACNL1A3 HOKPP1 See more See less
Scope Statement	Both autosomal dominant and autosomal recessive inheritance have been documented [MISCELLANEOUS] Highly variable severity [MISCELLANEOUS] Onset usually in the perinatal period or infancy [MISCELLANEOUS] Early death due to respiratory failure can occur [MISCELLANEOUS] Caused by mutation in the calcium channel, voltage-dependent, L type, alpha-1S subunit (CACNA1S, 114208.0010) [MOLECULAR BASIS] Progressive disorder [MISCELLANEOUS] See more See less
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000660 http://purl.bioontology.org/ontology/OMIM/MTHU000379 http://purl.bioontology.org/ontology/OMIM/MTHU076969 http://purl.bioontology.org/ontology/OMIM/MTHU076965 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU076493 http://purl.bioontology.org/ontology/OMIM/MTHU036444 http://purl.bioontology.org/ontology/OMIM/MTHU069640 http://purl.bioontology.org/ontology/OMIM/MTHU003217 http://purl.bioontology.org/ontology/OMIM/MTHU076964 http://purl.bioontology.org/ontology/OMIM/MTHU063758 http://purl.bioontology.org/ontology/OMIM/MTHU076967 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU076962 http://purl.bioontology.org/ontology/OMIM/MTHU076963 http://purl.bioontology.org/ontology/OMIM/MTHU076966 http://purl.bioontology.org/ontology/OMIM/MTHU002725 http://purl.bioontology.org/ontology/OMIM/MTHU032338 http://purl.bioontology.org/ontology/OMIM/MTHU000653 http://purl.bioontology.org/ontology/OMIM/MTHU036443 http://purl.bioontology.org/ontology/OMIM/MTHU000990 http://purl.bioontology.org/ontology/OMIM/MTHU001545 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU076968 http://purl.bioontology.org/ontology/OMIM/MTHU034716 http://purl.bioontology.org/ontology/OMIM/MTHU036439 http://purl.bioontology.org/ontology/OMIM/MTHU002170 http://purl.bioontology.org/ontology/OMIM/MTHU069293 http://purl.bioontology.org/ontology/OMIM/MTHU000509 http://purl.bioontology.org/ontology/OMIM/MTHU038242 http://purl.bioontology.org/ontology/OMIM/MTHU035696 http://purl.bioontology.org/ontology/OMIM/MTHU039381 http://purl.bioontology.org/ontology/OMIM/MTHU001330 http://purl.bioontology.org/ontology/OMIM/MTHU001564 http://purl.bioontology.org/ontology/OMIM/MTHU076935 http://purl.bioontology.org/ontology/OMIM/MTHU015980 http://purl.bioontology.org/ontology/OMIM/MTHU000798 http://purl.bioontology.org/ontology/OMIM/MTHU037360 http://purl.bioontology.org/ontology/OMIM/MTHU000730 See more See less
tui	T047
Gene Locus	1q32
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620246
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018 http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5830283
OMIM Entry Type	3
OMIM MimType Value	pound

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