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
External Links
Disease Ontology
DOID:0060445
Mondo Disease Ontology
MeSH
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1634 DCN decorin
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P07585 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: August 19, 2024