UniProt ID | Protein Name | Source |
---|---|---|
P04062 | Lysosomal acid glucosylceramidase | |
P12821 | Angiotensin-converting enzyme | |
Q13231 | Chitotriosidase-1 |
HPO ID | HPO Term |
---|---|
HP:0001744 | Splenomegaly |
HP:0001298 | Encephalopathy |
HP:0002205 | Recurrent respiratory infections |
HP:0000602 | Ophthalmoplegia |
HP:0002098 | Respiratory distress |
HP:0002793 | Abnormal pattern of respiration |
HP:0001371 | Flexion contracture |
HP:0000486 | Strabismus |
HP:0002015 | Dysphagia |
HP:0002240 | Hepatomegaly |
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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