visual impairment and progressive phthisis bulbi

Summary
Definition
An eye disease that is characterized by poor vision at birth, with development of bilateral phthisis by adulthood and that has_material_basis_in homozygous mutation in the MARK3 gene on chromosome 14q3.
Super Class
autosomal recessive disease eye disease
Disease Ontology
DOID:0070356
Mondo Disease Ontology
MeSH
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4140 MARK3 microtubule affinity regulating kinase 3
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P27448 MAP/microtubule affinity-regulating kinase 3

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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: April 7, 2025