FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term adult spinal muscular atrophy ID (Ontology) DOID:0050529 (Human Disease)
Definition A spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons.
Also Known As "SMA4" ; "spinal muscular atrophy 4" ; "SPINAL MUSCULAR ATROPHY, ADULT FORM" (for all, see Synonyms field below)
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DO.org
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 adult spinal muscular atrophy       1      1
 for disease ribbon | adult spinal muscular atrophy       1       --
 model of | adult spinal muscular atrophy       1       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
motor neuron disease             |
 |__spinal muscular atrophy______|
                                 adult spinal muscular atrophy  2 rec.
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Is a autosomal recessive disease
spinal muscular atrophy
Part of
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Synonyms
  • "SMA4" EXACT OMO:0003012
    "spinal muscular atrophy 4" EXACT
    "SPINAL MUSCULAR ATROPHY, ADULT FORM" EXACT
    "SPINAL MUSCULAR ATROPHY, TYPE IV" EXACT
Secondary IDs
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ICD10CM:G12.1
MESH:C563948
MIM:271150
ORDO:83420
UMLS_CUI:C1838230