childhood spinal muscular atrophy

Summary
Synonym
  • spinal muscular atrophies of childhood
  • survival motor neuron spinal muscular atrophy
Definition
A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood and that has_material_basis_in variation in the SMN gene.
Super Class
spinal muscular atrophy
External Links
Disease Ontology
DOID:0060160
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
353 APRT adenine phosphoribosyltransferase
3073 HEXA hexosaminidase subunit alpha
3339 HSPG2 heparan sulfate proteoglycan 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024