Experimental Factor Ontology

Last uploaded: November 18, 2024
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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.
exactMatch

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

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

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