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Standards Ontologies Notations
megalocornea

Summary
Synonym
  • anterior megalophthalmos
  • congenital anterior megalophthalmia
Definition
A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene.
Super Class
X-linked recessive disease corneal disease
Disease Ontology
DOID:0060305
Mondo Disease Ontology
UMLS
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4053 LTBP2 latent transforming growth factor beta binding protein 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
16997 Ltbp2 latent transforming growth factor beta binding protein 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
59106 Ltbp2 latent transforming growth factor beta binding protein 2
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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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