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Summary Literature (0)
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, SMA2, SMA II, spinal muscular atrophy 2, spinal muscular atrophy type II

Xenbase Genes : smn1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009673 - spinal muscular atrophy, type II

MIM:
MIM:253550 - SPINAL MUSCULAR ATROPHY, TYPE II; SMA2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), childhood spinal muscular atrophy (is_a)