UniProt ID | Protein Name | Source |
---|---|---|
O60218 | Aldo-keto reductase family 1 member B10 | |
Q6P1J6 | Phospholipase B1, membrane-associated |
HPO ID | HPO Term |
---|---|
HP:0001347 | Hyperreflexia |
HP:0001371 | Flexion contracture |
HP:0002019 | Constipation |
HP:0002191 | Progressive spasticity |
HP:0002307 | Drooling |
HP:0002317 | Unsteady gait |
HP:0002361 | Psychomotor deterioration |
HP:0002376 | Developmental regression |
HP:0002454 | Eye of the tiger anomaly of globus pallidus |
HP:0002483 | Bulbar signs |
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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