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Summary Literature (0)
DOID:0111196 - X-linked distal spinal muscular atrophy 3


Disease Ontology Definition:A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1.

Synonyms: ATP7A-related distal motor neuropathy, DSMAX, SMAX3, X-linked dHMN3, X-linked dSMA3, X-linked distal hereditary motor neuropathy type 3, X-linked recessive distal spinal muscular atrophy

Xenbase Genes : atp7a


OMIM:
OMIM:300489 - SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3; SMAX3

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): spinal muscular atrophy (is_a)