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