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Metadata
ID DOID:0111196
Name X-linked distal spinal muscular atrophy 3
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.
https://www.ncbi.nlm.nih.gov/pubmed/14985388, https://www.ncbi.nlm.nih.gov/pubmed/20170900
Xrefs

MESH:C564506

OMIM:300489

ORDO:139557

UMLS_CUI:C1845359

Synonyms

ATP7A-related distal motor neuropathy [EXACT]

DSMAX [EXACT]

SMAX3 [EXACT]

X-linked dHMN3 [EXACT]

X-linked distal hereditary motor neuropathy type 3 [EXACT]

X-linked dSMA3 [EXACT]

X-linked recessive distal spinal muscular atrophy [EXACT]

Parent Relationships

is_a spinal muscular atrophy

is_a X-linked recessive disease

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