congenital stromal corneal dystrophy

Summary
Synonym
  • CSCD
  • congenital hereditary stromal dystrophy
Definition
A stromal dystrophy that is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth.
Super Class
physical disorder stromal dystrophy
Disease Ontology
DOID:0060445
Mondo Disease Ontology
MeSH
ORDO
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1634 DCN decorin
Displaying 1 entry
Gene ID Gene Symbol Description Source
13179 Dcn decorin
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P07585 Decorin
Displaying 1 entry
UniProt ID Protein Name Source
P28654 Decorin
The Human Phenotype Ontology
Displaying all 10 entries
HPO ID HPO Term
HP:0000529 Progressive visual loss
HP:0007709 Band-shaped corneal dystrophy
HP:0000486 Strabismus
HP:0200020 Corneal erosion
HP:0001131 Corneal dystrophy
HP:0000006 Autosomal dominant inheritance
HP:0003623 Neonatal onset
HP:0000501 Glaucoma
HP:0011487 Increased corneal thickness
HP:0000613 Photophobia
Displaying 1 entry
Gene ID Gene Symbol Description
1634 DCN decorin

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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: April 7, 2025