anterior segment dysgenesis

Summary
Synonym
  • anterior segment developmental anomaly
  • corneal opacification and other ocular anomalies
  • sclerocornea with other ocular anomalies
Definition
An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye.
Super Class
eye disease monogenic disease
External Links
Disease Ontology
DOID:0060648
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1545 CYP1B1 cytochrome P450 family 1 subfamily B member 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q16678 Cytochrome P450 1B1

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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