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Summary Literature (0)
MIM:617158 - MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV


Xenbase Genes: sqstm1

Human Disease Resource: OMIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014945 - myopathy, distal, with rimmed vacuoles

Disease Ontology (DO):
DOID:0080718 - GNE myopathy
DOID:0081363 - distal myopathy with rimmed vacuoles