UniProt ID | Protein Name | Source |
---|---|---|
P32019 | Type II inositol 1,4,5-trisphosphate 5-phosphatase | |
P54802 | Alpha-N-acetylglucosaminidase | |
Q01968 | Inositol polyphosphate 5-phosphatase OCRL | |
Q93063 | Exostosin-2 |
HPO ID | HPO Term |
---|---|
HP:0003236 | Elevated circulating creatine kinase concentration |
HP:0001537 | Umbilical hernia |
HP:0011463 | Childhood onset |
HP:0000121 | Nephrocalcinosis |
HP:0004322 | Short stature |
HP:0100543 | Cognitive impairment |
HP:0002150 | Hypercalciuria |
HP:0000114 | Proximal tubulopathy |
HP:0003126 | Low-molecular-weight proteinuria |
HP:0011342 | Mild global developmental delay |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: August 19, 2024