OBO ID: DOID:14775
Term Name: brittle cornea syndrome 1 Search Ontology:
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)
OTHER brittle cornea syndrome 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ZNF469 Brittle cornea syndrome 1 229200
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None