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Standards Ontologies Notations
spinal muscular atrophy

Summary
Definition
A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.
Super Class
motor neuron disease
External Links
Disease Ontology
DOID:12377
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
Related Genes
Displaying entries 21 - 23 of 23 in total
Gene ID Gene Symbol Description Source
5728 PTEN phosphatase and tensin homolog
5743 PTGS2 prostaglandin-endoperoxide synthase 2
140578 CHODL chondrolectin
Displaying 1 entry
Gene ID Gene Symbol Description Source
15212 Hexb hexosaminidase B
Displaying 1 entry
Gene ID Gene Symbol Description Source
294673 Hexb hexosaminidase subunit beta
Displaying all 3 entries
Gene ID Gene Symbol Description Source
31808 Hexo2 Hexosaminidase 2
38528 Hexo1 Hexosaminidase 1
250735 fdl fused lobes
Displaying 1 entry
Gene ID Gene Symbol Description Source
180533 hex-1 Beta-hexosaminidase A
Related Glycoprotein
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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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