Search Ontology:
Human Disease
autosomal dominant keratitis
- Term ID
- DOID:0111383
- Synonyms
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- 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
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- GARD:3089
- MESH:C537022
- MIM:148190
- ORDO:2334
- SNOMEDCT_US_2023_03_01:715339004
- UMLS_CUI:C1835698
- Ontology
- Human Disease ( DOID:0111383 )
- is a type of
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Genes Involved
Zebrafish Models