Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	optic atrophy 4
Synonyms	OPA4
Definitions	An optic atrophy that has_material_basis_in heterozygous mutation in a region on chromosome 18q12.2-q12.3.
ID	http://purl.obolibrary.org/obo/DOID_0111440
database_cross_reference	OMIM:605293 MESH:C565343
definition	An optic atrophy that has_material_basis_in heterozygous mutation in a region on chromosome 18q12.2-q12.3.
has exact synonym	OPA4
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0111440
label	optic atrophy 4
notation	DOID:0111440
prefLabel	optic atrophy 4
subClassOf	http://purl.obolibrary.org/obo/DOID_0050736 http://purl.obolibrary.org/obo/DOID_5723

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/605293	Online Mendelian Inheritance in Man	LOOM
	http://purl.bioontology.org/ontology/MESH/C565343	Medical Subject Headings	LOOM