UniProt ID | Protein Name | Source |
---|---|---|
P04062 | Lysosomal acid glucosylceramidase | |
P12821 | Angiotensin-converting enzyme | |
Q13231 | Chitotriosidase-1 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0002344 | Progressive neurologic deterioration |
HP:0001336 | Myoclonus |
HP:0004325 | Decreased body weight |
HP:0000716 | Depression |
HP:0007817 | Horizontal supranuclear gaze palsy |
HP:0003656 | Decreased beta-glucocerebrosidase level |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024