cataract 44

Summary
Synonym
  • CTRCT44
  • total early-onset cataract
Definition
A cataract that has_material_basis_in homozygous mutation in the LSS gene on chromosome 21q22.
Super Class
autosomal recessive disease cataract
Disease Ontology
DOID:0110267
Mondo Disease Ontology
ORDO
OMIM
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4047 LSS lanosterol synthase
The Human Phenotype Ontology
Displaying all 4 entries
HPO ID HPO Term
HP:0000519 Developmental cataract
HP:0003577 Congenital onset
HP:0000007 Autosomal recessive inheritance
HP:0000572 Visual loss
Displaying 1 entry
Gene ID Gene Symbol Description
4047 LSS lanosterol synthase

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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: December 9, 2024