CENTRAL CORE DISEASE OF MUSCLE

MULTIMINICORE DISEASE, MODERATE, WITH HAND INVOLVEMENT

http://purl.bioontology.org/ontology/OMIM/117000

MULTIMINICORE DISEASE, MODERATE, WITH HAND INVOLVEMENT

CCD

MULTICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT

CCO

MINICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT

CNMDU1

NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER

C1861752

C1861753

C1861751

C0751951

C2674259

19q13.1

CCO

MHS

RYR1

http://purl.bioontology.org/ontology/OMIM/MTHU019066

http://purl.bioontology.org/ontology/OMIM/MTHU003217

http://purl.bioontology.org/ontology/OMIM/MTHU019062

http://purl.bioontology.org/ontology/OMIM/MTHU000379

http://purl.bioontology.org/ontology/OMIM/MTHU024311

http://purl.bioontology.org/ontology/OMIM/MTHU002160

http://purl.bioontology.org/ontology/OMIM/MTHU045550

http://purl.bioontology.org/ontology/OMIM/MTHU001017

http://purl.bioontology.org/ontology/OMIM/MTHU026871

http://purl.bioontology.org/ontology/OMIM/MTHU000680

http://purl.bioontology.org/ontology/OMIM/MTHU021197

http://purl.bioontology.org/ontology/OMIM/MTHU019067

http://purl.bioontology.org/ontology/OMIM/MTHU019063

http://purl.bioontology.org/ontology/OMIM/MTHU019069

http://purl.bioontology.org/ontology/OMIM/MTHU019061

http://purl.bioontology.org/ontology/OMIM/MTHU003493

http://purl.bioontology.org/ontology/OMIM/MTHU024312

http://purl.bioontology.org/ontology/OMIM/MTHU019065

http://purl.bioontology.org/ontology/OMIM/MTHU003216

http://purl.bioontology.org/ontology/OMIM/MTHU004486

http://purl.bioontology.org/ontology/OMIM/MTHU004192

http://purl.bioontology.org/ontology/OMIM/MTHU026869

http://purl.bioontology.org/ontology/OMIM/MTHU005250

http://purl.bioontology.org/ontology/OMIM/MTHU000387

http://purl.bioontology.org/ontology/OMIM/MTHU000744

http://purl.bioontology.org/ontology/OMIM/MTHU026870

Phenotype description, molecular basis known.

157550

117000

3

pound

CENTRAL CORE DISEASE OF MUSCLE

T047