brittle cornea syndrome 1
Information
- Disease name
- brittle cornea syndrome 1
- Disease ID
- DOID:14775
- Description
- "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." [url:https\://pubmed.ncbi.nlm.nih.gov/28306229/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:13359
- Cross Reference ID (Disease Ontology)
- GARD:1019
- Cross Reference ID (Disease Ontology)
- MESH:C536198
- Cross Reference ID (Disease Ontology)
- MIM:229200
- Cross Reference ID (Disease Ontology)
- NCI:C125700
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:25606004
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0268342
- Exact Synonym (Disease Ontology)
- type VIB Ehlers-Danlos syndrome