| Metadata | |
|---|---|
| ID | DOID:0111383 |
| Name | autosomal dominant keratitis |
| Definition | 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. https://www.ncbi.nlm.nih.gov/pubmed/7668281 |
| Xrefs |
SNOMEDCT_US_2023_03_01:715339004 |
| Subsets |
DO_rare_slim |
| Synonyms |
hereditary keratitis [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a keratitis |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |