Search Ontology:
Human Disease

juvenile spinal muscular atrophy

Term ID
DOID:12376
Synonyms
  • Kugelberg-Welander disease
  • SMA3
  • Spinal Muscular Atrophy Type 3
  • Type III Spinal Muscular Atrophy
Definition
A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk and that has_material_basis_in homozygous or compound heterozygous mutation in the SMN1 gene on chromosome 5q13. https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy
References
Ontology
Human Disease   ( DOID:12376 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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