UniProt ID | Protein Name | Source |
---|---|---|
Q9H9S5 | Ribitol 5-phosphate transferase FKRP |
HPO ID | HPO Term |
---|---|
HP:0000238 | Hydrocephalus |
HP:0000486 | Strabismus |
HP:0000501 | Glaucoma |
HP:0000505 | Visual impairment |
HP:0000518 | Cataract |
HP:0000545 | Myopia |
HP:0000648 | Optic atrophy |
HP:0001250 | Seizure |
HP:0001252 | Hypotonia |
HP:0001276 | Hypertonia |
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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