autosomal dominant keratitis
Information
- Disease name
- autosomal dominant keratitis
- Disease ID
- DOID:0111383
- Description
- "A keratitis characterized by corneal opacification and vascularization and foveal hypoplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7668281]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:4677
- Cross Reference ID (Disease Ontology)
- GARD:3089
- Cross Reference ID (Disease Ontology)
- MESH:C537022
- Cross Reference ID (Disease Ontology)
- MIM:148190
- Cross Reference ID (Disease Ontology)
- ORDO:2334
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:715339004
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1835698
- Exact Synonym (Disease Ontology)
- hereditary keratitis
- OrphaNumber from OrphaNet (Orphanet)
- 2334