UniProt ID | Protein Name | Source |
---|---|---|
P04062 | Lysosomal acid glucosylceramidase | |
P17405 | Sphingomyelin phosphodiesterase | |
Q13231 | Chitotriosidase-1 |
HPO ID | HPO Term |
---|---|
HP:0001252 | Hypotonia |
HP:0002207 | Diffuse reticular or finely nodular infiltrations |
HP:0000737 | Irritability |
HP:0002019 | Constipation |
HP:0002540 | Inability to walk |
HP:0001324 | Muscle weakness |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024