|OBO ID: DOID:14775|
|Term Name:||brittle cornea syndrome 1||Search 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. https://pubmed.ncbi.nlm.nih.gov/28306229/|
|Ontology:||Human Disease (DOID:14775)|
|is a type of:||
OTHER brittle cornea syndrome 1 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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