UniProt ID | Protein Name | Source |
---|---|---|
P04062 | Lysosomal acid glucosylceramidase | |
P12821 | Angiotensin-converting enzyme | |
Q13231 | Chitotriosidase-1 |
HPO ID | HPO Term |
---|---|
HP:0001263 | Global developmental delay |
HP:0011590 | Double aortic arch |
HP:0001522 | Death in infancy |
HP:0002063 | Rigidity |
HP:0011968 | Feeding difficulties |
HP:0001250 | Seizure |
HP:0002104 | Apnea |
HP:0002020 | Gastroesophageal reflux |
HP:0003593 | Infantile onset |
HP:0001347 | Hyperreflexia |
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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