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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
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)