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Disease Ontology Browser
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory