UniProt ID | Protein Name | Source |
---|---|---|
P00491 | Purine nucleoside phosphorylase | |
P60891 | Ribose-phosphate pyrophosphokinase 1 |
HPO ID | HPO Term |
---|---|
HP:0001263 | Global developmental delay |
HP:0009830 | Peripheral neuropathy |
HP:0000707 | Abnormality of the nervous system |
HP:0002149 | Hyperuricemia |
HP:0000407 | Sensorineural hearing impairment |
HP:0001919 | Acute kidney injury |
HP:0003240 | Increased phosphoribosylpyrophosphate synthetase level |
HP:0001249 | Intellectual disability |
HP:0000083 | Renal insufficiency |
HP:0001999 | Abnormal facial shape |
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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