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Summary Literature (1)
MIM:181405 - SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY; SPSMA


Xenbase Genes: trpv4

Human Disease Resource: OMIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008408 - scapuloperoneal spinal muscular atrophy, autosomal dominant

Disease Ontology (DO):
DOID:0111552 - scapuloperoneal spinal muscular atrophy