Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	exudative vitreoretinopathy 1
Synonyms	EVR1
Definitions	An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the FZD4 gene on chromosome 11q14.2.
ID	http://purl.obolibrary.org/obo/DOID_0111412
database_cross_reference	OMIM:133780 MESH:C536382
definition	An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the FZD4 gene on chromosome 11q14.2.
has exact synonym	EVR1
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0111412
label	exudative vitreoretinopathy 1
notation	DOID:0111412
prefLabel	exudative vitreoretinopathy 1
subClassOf	http://purl.obolibrary.org/obo/DOID_0050535 http://purl.obolibrary.org/obo/DOID_0050736

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/133780	Online Mendelian Inheritance in Man	LOOM
	http://purl.bioontology.org/ontology/MESH/C536382	Medical Subject Headings	LOOM