Term Name:	brittle cornea syndrome 1
Synonyms:	type VIB Ehlers-Danlos syndrome
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.
Ontology:	Human Disease [DOID:14775]   ( DOID:14775 )