UniProt ID | Protein Name | Source |
---|---|---|
P16278 | Beta-galactosidase |
HPO ID | HPO Term |
---|---|
HP:0001982 | Sea-blue histiocytosis |
HP:0009826 | Limb undergrowth |
HP:0001251 | Ataxia |
HP:0002673 | Coxa valga |
HP:0000280 | Coarse facial features |
HP:0002123 | Generalized myoclonic seizure |
HP:0007272 | Progressive psychomotor deterioration |
HP:0001508 | Failure to thrive |
HP:0000160 | Narrow mouth |
HP:0002510 | Spastic tetraplegia |
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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