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DOID:14775 - brittle cornea syndrome 1
Disease 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.
Synonyms: Kyphoscoliosis type, brittle cornea syndrome 2, type VIB Ehlers-Danlos syndrome,
Echinobase Genes :
MIM:229200 - brittle cornea syndrome 1; bcs1 |
MIM:614170 - brittle cornea syndrome 2; bcs2 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
Ehlers-Danlos syndrome (is_a),
autosomal recessive disease (is_a),
corneal disease (is_a)