DOID:0050530 - intermediate spinal muscular atrophy
Disease Ontology 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.
Synonyms: MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM, MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE, SMA II, SMA2, spinal muscular atrophy 2, spinal muscular atrophy type II,
Xenbase Genes : smn1
|MONDO:0009673 - spinal muscular atrophy, type II|
|OMIM:253550 - SPINAL MUSCULAR ATROPHY, TYPE II; SMA2|
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee