OBO ID: DOID:12376
Term Name: juvenile spinal muscular atrophy Search Ontology:
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 juvenile spinal muscular atrophy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SMN1 Spinal muscular atrophy-3 253400
SMN2 {Spinal muscular atrophy, type III, modifier of}
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)
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