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Disease Ontology Browser
intermediate spinal muscular atrophy (DOID:0050530)
Alliance: disease page
Synonyms: MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM; MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE; SMA2; SMA II; spinal muscular atrophy 2; spinal muscular atrophy type II
Alt IDs: OMIM:253550, MESH:D014897, NCI:C156310, UMLS_CUI:C0393538
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.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
07/02/2024
MGI 6.13
The Jackson Laboratory