OBO ID: DOID:0050530
Term Name: intermediate spinal muscular atrophy Search Ontology:
Synonyms:
  • MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM
  • MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE
  • SMA II
  • SMA2
  • spinal muscular atrophy 2
  • spinal muscular atrophy type II
Definition: A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons. https://rarediseases.info.nih.gov/diseases/4945/spinal-muscular-atrophy-type-2
References:
Ontology: Human Disease   (DOID:0050530)
OTHER intermediate spinal muscular atrophy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SMN1 Spinal muscular atrophy-2 253550
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)