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DO Term : autosomal dominant keratitis [DOID:0111383] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • MESH:C537022,
  • UMLS_CUI:C1835698,
  • SNOMEDCT_US_2023_03_01:715339004,
  • hereditary keratitis,
  • OMIM:148190,
  • GARD:3089,
  • ORDO:2334,
  • 148190
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents