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Standards Ontologies Notations
coloboma

Summary
Synonym
  • coloboma of eye
  • coloboma of macula
  • congenital ocular coloboma
Definition
An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.
Super Class
eye disease
External Links
Disease Ontology
DOID:12270
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entry 31 - 31 of 31 in total
Gene ID Gene Symbol Description Source
729920 CRPPA CDP-L-ribitol pyrophosphorylase A
Related Glycoprotein
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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