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Summary Literature (0)
MIM:617072 - MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES; MRRSDC

Xenbase Genes: tor1aip1

Human Disease Resource: OMIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014900 - autosomal recessive limb-girdle muscular dystrophy type 2Y

Disease Ontology (DO):
DOID:0110289 - autosomal recessive limb-girdle muscular dystrophy type 2Y