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

• GARD:1019
• MESH:C536198
• MIM:229200
• NCI:C125700
• SNOMEDCT_US_2023_03_01:25606004
• UMLS_CUI:C0268342

Ontology

Human Disease   ( DOID:14775 )