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brittle cornea syndrome 1
Summary
- Synonym
-
- 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.
- Super Class
- Ehlers-Danlos syndrome autosomal recessive disease corneal disease
External Links
- Disease Ontology
- DOID:14775
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q02809 | Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | |
| Q96JG9 | Zinc finger protein 469 |
