Search Ontology:
Human Disease

intermediate spinal muscular atrophy

Term ID
DOID:0050530
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 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models