autosomal recessive disease corneal disease Ehlers-Danlos syndrome brittle cornea syndrome 1 MIM:229200 MESH:C536198 GARD:1019 NCI:C125700 OMIM mapping confirmed by DO. [LS]. UMLS_CUI:C0268342 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. SNOMEDCT_US_2025_09_01:25606004 DOID:14775 disease_ontology type VIB Ehlers-Danlos syndrome