Search Ontology:
Human Disease

X-linked distal spinal muscular atrophy 3

Term ID
DOID:0111196
Synonyms
  • ATP7A-related distal motor neuropathy
  • DSMAX
  • SMAX3
  • X-linked dHMN3
  • X-linked distal hereditary motor neuropathy type 3
  • X-linked dSMA3
  • X-linked recessive distal spinal muscular atrophy
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. (2)
References
Ontology
Human Disease   ( DOID:0111196 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models