Online Mendelian Inheritance in Man - CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/255320 http://purl.bioontology.org/ontology/OMIM/255320
Preferred Name	CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE
Synonyms	MULTIMINICORE DISEASE WITH EXTERNAL OPHTHALMOPLEGIA MULTICORE MYOPATHY MULTIMINICORE MYOPATHY MINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA CMYO1B
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MULTIMINICORE DISEASE WITH EXTERNAL OPHTHALMOPLEGIA MULTICORE MYOPATHY MULTIMINICORE MYOPATHY MINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA CMYO1B See more See less
prefLabel	CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE
Gene Symbol	RYR1 MHS KDS CMYO1B CMYO1A
Scope Statement	Findings in muscle biopsy may be variable [MISCELLANEOUS] Caused by mutation in the ryanodine receptor-1 gene (RYR1, 180901.0021) [MOLECULAR BASIS] Onset in neonatal period or early infancy [MISCELLANEOUS] Some patients have lethal fetal akinesia with death in utero [MISCELLANEOUS] Highly variable phenotype [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000329 http://purl.bioontology.org/ontology/OMIM/MTHU007987 http://purl.bioontology.org/ontology/OMIM/MTHU010843 http://purl.bioontology.org/ontology/OMIM/MTHU000379 http://purl.bioontology.org/ontology/OMIM/MTHU010850 http://purl.bioontology.org/ontology/OMIM/MTHU000422 http://purl.bioontology.org/ontology/OMIM/MTHU003216 http://purl.bioontology.org/ontology/OMIM/MTHU003218 http://purl.bioontology.org/ontology/OMIM/MTHU010738 http://purl.bioontology.org/ontology/OMIM/MTHU010842 http://purl.bioontology.org/ontology/OMIM/MTHU045550 http://purl.bioontology.org/ontology/OMIM/MTHU003221 http://purl.bioontology.org/ontology/OMIM/MTHU042093 http://purl.bioontology.org/ontology/OMIM/MTHU010844 http://purl.bioontology.org/ontology/OMIM/MTHU010840 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU037783 http://purl.bioontology.org/ontology/OMIM/MTHU032349 http://purl.bioontology.org/ontology/OMIM/MTHU003220 http://purl.bioontology.org/ontology/OMIM/MTHU010848 http://purl.bioontology.org/ontology/OMIM/MTHU010839 http://purl.bioontology.org/ontology/OMIM/MTHU000958 http://purl.bioontology.org/ontology/OMIM/MTHU056967 http://purl.bioontology.org/ontology/OMIM/MTHU010849 http://purl.bioontology.org/ontology/OMIM/MTHU003215 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU042092 http://purl.bioontology.org/ontology/OMIM/MTHU036439 http://purl.bioontology.org/ontology/OMIM/MTHU002170 http://purl.bioontology.org/ontology/OMIM/MTHU010851 http://purl.bioontology.org/ontology/OMIM/MTHU005652 http://purl.bioontology.org/ontology/OMIM/MTHU000509 http://purl.bioontology.org/ontology/OMIM/MTHU010841 http://purl.bioontology.org/ontology/OMIM/MTHU008285 http://purl.bioontology.org/ontology/OMIM/MTHU049075 http://purl.bioontology.org/ontology/OMIM/MTHU045551 http://purl.bioontology.org/ontology/OMIM/MTHU001721 http://purl.bioontology.org/ontology/OMIM/MTHU036440 http://purl.bioontology.org/ontology/OMIM/MTHU003222 http://purl.bioontology.org/ontology/OMIM/MTHU021643 http://purl.bioontology.org/ontology/OMIM/MTHU003219 http://purl.bioontology.org/ontology/OMIM/MTHU005802 http://purl.bioontology.org/ontology/OMIM/MTHU032348 http://purl.bioontology.org/ontology/OMIM/MTHU003056 http://purl.bioontology.org/ontology/OMIM/MTHU032350 http://purl.bioontology.org/ontology/OMIM/MTHU042091 http://purl.bioontology.org/ontology/OMIM/MTHU049076 http://purl.bioontology.org/ontology/OMIM/MTHU032353 http://purl.bioontology.org/ontology/OMIM/MTHU036957 http://purl.bioontology.org/ontology/OMIM/MTHU000730 http://purl.bioontology.org/ontology/OMIM/MTHU043020 See more See less
tui	T047
Gene Locus	19q13.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	255320
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1850674
Moved from	607552
OMIM Entry Type	3
OMIM MimType Value	pound

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