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Standards Ontologies Notations
sialuria

Summary
Definition
A lysosomal storage disease characterized by increased sialic acid in the urine.
Super Class
lysosomal storage disease
Disease Ontology
DOID:3659
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
10020 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
26503 SLC17A5 solute carrier family 17 member 5
Displaying all 2 entries
Gene ID Gene Symbol Description Source
50798 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
235504 Slc17a5 solute carrier family 17 (anion/sugar transporter), member 5
Displaying all 2 entries
Gene ID Gene Symbol Description Source
114711 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
363103 Slc17a5 solute carrier family 17 member 5
Displaying 1 entry
Gene ID Gene Symbol Description Source
176317 slc-17.2 putative transporter slc-17.2
Displaying 1 entry
Gene ID Gene Symbol Description Source
850671 YCT1 Yct1p
The Human Phenotype Ontology
Displaying entries 1 - 10 of 69 in total
HPO ID HPO Term
HP:0001433 Hepatosplenomegaly
HP:0008151 Prolonged prothrombin time
HP:0000629 Periorbital fullness
HP:0002487 Hyperkinetic movements
HP:0000316 Hypertelorism
HP:0002910 Elevated circulating hepatic transaminase concentration
HP:0001256 Intellectual disability, mild
HP:0012103 Abnormality of the mitochondrion
HP:0001999 Abnormal facial shape
HP:0000280 Coarse facial features
Displaying all 2 entries
Gene ID Gene Symbol Description
10020 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
26503 SLC17A5 solute carrier family 17 member 5
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024