loading...| 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 |
|
| alternative label |
hereditary keratitis |
|
| database_cross_reference |
OMIM:148190 UMLS_CUI:C1835698 SNOMEDCT_US_2023_03_01:715339004 MESH:C537022 GARD:3089 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 |
|
| note |
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. |
|
| preferred label |
autosomal dominant keratitis |
|
| prefLabel |
autosomal dominant keratitis |
|
| subClassOf |