Human Disease Ontology

Last uploaded: November 1, 2024
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

http://purl.obolibrary.org/obo/GENO_0000147

has_obo_namespace

disease_ontology

id

DOID:0111383

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

autosomal dominant keratitis

notation

DOID:0111383

prefLabel

autosomal dominant keratitis

subClassOf

http://purl.obolibrary.org/obo/DOID_4677

http://purl.obolibrary.org/obo/DOID_0050736

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