aniridia

Summary
Synonym
  • Aplasia of iris
  • isolated aniridia
Definition
An iris disease that is characterized by a complete or partial absence of the colored part of the eye.
Super Class
iris disease
External Links
Disease Ontology
DOID:12271
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 13 in total
Gene ID Gene Symbol Description Source
131 ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide
414 ARSD arylsulfatase D
847 CAT catalase
1545 CYP1B1 cytochrome P450 family 1 subfamily B member 1
1743 DLST dihydrolipoamide S-succinyltransferase
2271 FH fumarate hydratase
2719 GPC3 glypican 3
4191 MDH2 malate dehydrogenase 2
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A
6390 SDHB succinate dehydrogenase complex iron sulfur subunit B

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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