Preferred Name | autosomal dominant keratitis | |
Synonyms |
hereditary keratitis |
|
Definitions |
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. |
|
ID |
http://purl.obolibrary.org/obo/DOID_0111383 |
|
database_cross_reference |
UMLS_CUI:C1835698 SNOMEDCT_US_2023_03_01:715339004 MESH:C537022 GARD:3089 MIM:148190 ORDO:2334 |
|
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. |
|
has exact synonym |
hereditary keratitis |
|
has material basis in | ||
has_obo_namespace |
disease_ontology |
|
id |
DOID:0111383 |
|
in_subset | ||
label |
autosomal dominant keratitis |
|
notation |
DOID:0111383 |
|
prefLabel |
autosomal dominant keratitis |
|
subClassOf |
Create mapping