autosomal dominant keratitis

Term ID

DOID:0111383

Synonyms

• hereditary 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

References

• GARD:3089
• MESH:C537022
• OMIM:148190
• ORDO:2334
• SNOMEDCT_US_2023_03_01:715339004
• UMLS_CUI:C1835698

Ontology

Human Disease   ( DOID:0111383 )