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Standards Ontologies Notations
mucolipidosis type IV

Summary
Definition
A mucolipidosis that is characterized by delayed development and vision impairment that worsens over time.
Super Class
mucolipidosis
Disease Ontology
DOID:0080490
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
55283 MCOLN3 mucolipin TRP cation channel 3
57192 MCOLN1 mucolipin TRP cation channel 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
94178 Mcoln1 mucolipin 1
171166 Mcoln3 mucolipin 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
176074 cup-5 Polycystin cation channel PKD1/PKD2 domain-containing protein
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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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