FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal dominant keratitis ID (Ontology) DOID:0111383 (Human Disease)
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.
Also Known As "hereditary keratitis"
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 Genes
 autosomal dominant keratitis       2
 for disease ribbon | autosomal dominant keratitis       2
 model of | autosomal dominant keratitis       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
corneal disease                 |
 |__keratitis___________________|
                                autosomal dominant keratitis  2 rec.
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Is a autosomal dominant disease
keratitis
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Synonyms
  • "hereditary keratitis" EXACT
Secondary IDs
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GARD:3089
MESH:C537022
MIM:148190
ORDO:2334
SNOMEDCT_US_2023_03_01:715339004
UMLS_CUI:C1835698