mucolipidosis type IV

Summary
Definition
A mucolipidosis that is characterized by delayed development and vision impairment that worsens over time.
Super Class
mucolipidosis
External Links
Disease Ontology
DOID:0080490
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3073 HEXA hexosaminidase subunit alpha
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P06865 Beta-hexosaminidase subunit alpha

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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: August 19, 2024