FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term spinal muscular atrophy ID (Ontology) DOID:12377 (Human Disease)
Definition A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.
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Records annotated with this term OR any of its CHILD TERMS
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       8
Human Disease Models (FBhh)  DOID       2
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 Alleles Genes Human Disease Models
 spinal muscular atrophy       8      5      2
 ameliorates | spinal muscular atrophy       2       --       --
 model of | spinal muscular atrophy       6       --       --
Spanning Tree (Parents/Children)
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  neurodegenerative disease
   |__motor neuron disease
       |__spinal muscular atrophy  236 rec.
           |__adult spinal muscular atrophy 2 rec.
           |__autosomal dominant adult-onset proximal spinal muscular atrophy 9 rec.
           |__autosomal dominant distal hereditary motor neuronopathy 38 rec.
           |   |__autosomal dominant distal hereditary motor neuronopathy 1
           |   |__autosomal dominant distal hereditary motor neuronopathy 2 15 rec.
           |   |__autosomal dominant distal hereditary motor neuronopathy 3 6 rec.
           |   |__autosomal dominant distal hereditary motor neuronopathy 4 13 rec.
           |   |__autosomal dominant distal hereditary motor neuronopathy 5 2 rec.
           |   |__autosomal dominant distal hereditary motor neuronopathy 6
           |   |__autosomal dominant distal hereditary motor neuronopathy 7 1 rec.
           |   |__autosomal dominant distal hereditary motor neuronopathy 8 3 rec.
           |   |__autosomal dominant distal hereditary motor neuronopathy 9 1 rec.
           |   |__autosomal dominant distal hereditary motor neuronopathy 10
           |   |__autosomal dominant distal hereditary motor neuronopathy 11 1 rec.
           |   |__autosomal dominant distal hereditary motor neuronopathy 12 1 rec.
           |   |__autosomal dominant distal hereditary motor neuronopathy 13 1 rec.
           |   |__autosomal dominant distal hereditary motor neuronopathy 14 3 rec.
           |   |__autosomal dominant distal hereditary motor neuronopathy 15 1 rec.
           |__autosomal recessive distal hereditary motor neuronopathy 14 rec.
           |   |__autosomal recessive distal hereditary motor neuronopathy 1 1 rec.
           |   |__autosomal recessive distal hereditary motor neuronopathy 2
           |   |__autosomal recessive distal hereditary motor neuronopathy 3
           |   |__autosomal recessive distal hereditary motor neuronopathy 4 1 rec.
           |   |__autosomal recessive distal hereditary motor neuronopathy 5 1 rec.
           |   |__autosomal recessive distal hereditary motor neuronopathy 6 1 rec.
           |   |__autosomal recessive distal hereditary motor neuronopathy 7
           |   |__autosomal recessive distal hereditary motor neuronopathy 8 7 rec.
           |   |__autosomal recessive distal hereditary motor neuronopathy 9 1 rec.
           |   |__autosomal recessive distal hereditary motor neuronopathy 10 2 rec.
           |__childhood spinal muscular atrophy 98 rec.
           |   |__intermediate spinal muscular atrophy 5 rec.
           |   |__juvenile spinal muscular atrophy 14 rec.
           |   |__spinal muscular atrophy type 0
           |   |__Werdnig-Hoffmann disease 2 rec.
           |__Kennedy's disease 56 rec.
           |__spinal muscular atrophy with lower extremity predominant 7 rec.
           |   |__spinal muscular atrophy with lower extremity predominant 1 2 rec.
           |   |__spinal muscular atrophy with lower extremity predominant 2A 5 rec.
           |   |__spinal muscular atrophy with lower extremity predominant 2B 2 rec.
           |__spinal muscular atrophy with progressive myoclonic epilepsy
           |__spinal muscular atrophy, Jokela type 5 rec.
           |__X-linked distal spinal muscular atrophy 3 2 rec.
           |__X-linked spinal muscular atrophy 2 1 rec.
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GARD:7674
ICD10CM:G12.9
ICD9CM:335.1
MESH:D009134
NCI:C85075
SNOMEDCT_US_2023_03_01:5262007
UMLS_CUI:C0026847