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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

GARD:3089

MESH:C537022

OMIM:148190

ORDO:2334

SNOMEDCT_US_2023_03_01:715339004

UMLS_CUI:C1835698

Subsets

DO_rare_slim

Synonyms

hereditary keratitis [EXACT]

Parent Relationships

is_a keratitis

is_a autosomal dominant disease

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