optic atrophy 3

Summary
Synonym
  • ADOAC
  • OPA3
  • autosomal dominant optic atrophy 3
  • autosomal dominant optic atrophy and cataract
  • autosomal dominant optic atrophy type 3
  • optic atrophy 3 with cataract
Definition
An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in the OPA3 gene on chromosome 19q13.32.
Super Class
autosomal dominant disease optic atrophy
Disease Ontology
DOID:0111433
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
80207 OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3

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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: December 9, 2024