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Echinobase
Summary Literature (0)
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: Kyphoscoliosis type, brittle cornea syndrome 2, type VIB Ehlers-Danlos syndrome,

Echinobase Genes :


OMIM:
MIM:229200 - brittle cornea syndrome 1; bcs1
MIM:614170 - brittle cornea syndrome 2; bcs2

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Ehlers-Danlos syndrome (is_a), autosomal recessive disease (is_a), corneal disease (is_a)