| Metadata | |
|---|---|
| ID | DOID:14775 |
| Name | brittle cornea syndrome 1 |
| 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/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:25606004 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
type VIB Ehlers-Danlos syndrome [EXACT] |
| Parent Relationships |
is_a corneal disease |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has location some cornea |