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 entries 1 - 10 of 31 in total
Gene ID Gene Symbol Description Source
220 ALDH1A3 aldehyde dehydrogenase 1 family member A3
501 ALDH7A1 aldehyde dehydrogenase 7 family member A1
523 ATP6V1A ATPase H+ transporting V1 subunit A
1545 CYP1B1 cytochrome P450 family 1 subfamily B member 1
1605 DAG1 dystroglycan 1
1717 DHCR7 7-dehydrocholesterol reductase
2218 FKTN fukutin
2619 GAS1 growth arrest specific 1
5048 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1
5631 PRPS1 phosphoribosyl pyrophosphate synthetase 1

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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: August 19, 2024