cataract 5 multiple types

Summary
Synonym
  • CTRCT5
Definition
A cataract that has_material_basis_in heterozygous mutation in the gene that encodes heat-shock transcription factor-4 (HSF4) on chromosome 16q22.
Super Class
autosomal dominant disease cataract
External Links
Disease Ontology
DOID:0110255
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)

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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