Cell Culture Ontology

Last uploaded: July 23, 2014
Preferred Name

epithelial-stromal TGFBI dystrophy
Synonyms

TGFBI corneal dystrophy (disease)

corneal dystrophy (disease) caused by mutation in TGFBI

Definitions

Any corneal dystrophy (disease) in which the cause of the disease is a mutation in the TGFBI gene.

ID

http://purl.obolibrary.org/obo/MONDO_0000764

database_cross_reference

DOID:0060441

definition

Any corneal dystrophy (disease) in which the cause of the disease is a mutation in the TGFBI gene.

has_exact_synonym

TGFBI corneal dystrophy (disease)

corneal dystrophy (disease) caused by mutation in TGFBI

id

MONDO:0000764

in_subset

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

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

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

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

label

epithelial-stromal TGFBI dystrophy

notation

MONDO:0000764

preferred label

epithelial-stromal TGFBI dystrophy

prefLabel

epithelial-stromal TGFBI dystrophy

skos_exactMatch

http://purl.obolibrary.org/obo/DOID_0060441

subClassOf

http://www.ebi.ac.uk/efo/EFO_0000508

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

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