brittle cornea syndrome 1

Summary

DOID:14775 - brittle cornea syndrome 1

Disease Ontology Definition:An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24.

Synonyms: brittle cornea syndrome 2, Kyphoscoliosis type, type VIB Ehlers-Danlos syndrome

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: prdm5, znf469

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009242 - brittle cornea syndrome

MONDO:0009242 - brittle cornea syndrome

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), corneal disease (is_a), Ehlers-Danlos syndrome (is_a)