brittle cornea syndrome 1 (DOID:14775)
Alliance: disease page
Synonyms: type VIB Ehlers-Danlos syndrome
Alt IDs: OMIM:229200, MESH:C536198, NCI:C125700, UMLS_CUI:C0268342
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.