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Human Disease

brittle cornea syndrome 1

Term ID
DOID:14775
Synonyms
  • type VIB Ehlers-Danlos syndrome
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/
References
Ontology
Human Disease   ( DOID:14775 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations