intermediate spinal muscular atrophy

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: smn1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009673 - spinal muscular atrophy, type II

MONDO:0009673 - spinal muscular atrophy, type II

Other Model Organisms: AGR, 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)