Experimental Factor Ontology

Last uploaded: September 16, 2024
Preferred Name

autosomal dominant keratitis
Synonyms

keratitis, hereditary

dominantly inherited keratitis

hereditary keratitis

keratitis, autosomal dominant

Definitions

Hereditary keratitis is characterized by opacification and vascularisation of the cornea, often associated with macula hypoplasia.

ID

http://purl.obolibrary.org/obo/MONDO_0007848

database_cross_reference

OMIM:148190

UMLS:C1835698

MEDGEN:332039

MESH:C537022

Orphanet:2334

SCTID:715339004

DOID:0111383

GARD:3089

definition

Hereditary keratitis is characterized by opacification and vascularisation of the cornea, often associated with macula hypoplasia.

exactMatch

http://identifiers.org/snomedct/715339004

http://identifiers.org/mesh/C537022

http://identifiers.org/medgen/332039

http://purl.obolibrary.org/obo/DOID_0111383

http://linkedlifedata.com/resource/umls/id/C1835698

http://www.orpha.net/ORDO/Orphanet_2334

https://omim.org/entry/148190

has_exact_synonym

hereditary keratitis

keratitis, autosomal dominant

has_related_synonym

keratitis, hereditary

dominantly inherited keratitis

id

MONDO:0007848

in_subset

http://purl.obolibrary.org/obo/mondo#ordo_disorder

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#nord_rare

http://purl.obolibrary.org/obo/mondo#orphanet_rare

http://purl.obolibrary.org/obo/mondo#otar

http://purl.obolibrary.org/obo/mondo#gard_rare

label

autosomal dominant keratitis

notation

MONDO:0007848

preferred label

autosomal dominant keratitis

prefLabel

autosomal dominant keratitis

subClassOf

http://purl.obolibrary.org/obo/MONDO_0018102

http://www.ebi.ac.uk/efo/EFO_0009449

http://purl.obolibrary.org/obo/MONDO_0000426

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