FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term X-linked distal spinal muscular atrophy 3 ID (Ontology) DOID:0111196 (Human Disease)
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.
Also Known As "ATP7A-related distal motor neuropathy" ; "DSMAX" ; "SMAX3" (for all, see Synonyms field below)
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 X-linked distal spinal muscular atrophy 3       1      1
 for disease ribbon | X-linked distal spinal muscular atrophy 3       1       --
 model of | X-linked distal spinal muscular atrophy 3       1       --
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked recessive disease__
motor neuron disease            |
 |__spinal muscular atrophy_____|
                                X-linked distal spinal muscular atrophy 3  2 rec.
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Is a X-linked recessive disease
spinal muscular atrophy
Part of
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Synonyms
  • "ATP7A-related distal motor neuropathy" EXACT
    "DSMAX" EXACT OMO:0003012
    "SMAX3" EXACT OMO:0003012
    "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
Secondary IDs
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MESH:C564506
MIM:300489
ORDO:139557
SNOMEDCT_US_2023_03_01:766764008
UMLS_CUI:C1845359