Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	cone-rod dystrophy 2
Synonyms	CRD2
Definitions	A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13.
ID	http://purl.obolibrary.org/obo/DOID_0111005
database_cross_reference	GARD:6145 OMIM:120970
definition	A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13.
has exact synonym	CRD2 CORD2 retinal cone-rod dystrophy 2 cone-rod retinal dystrophy 2 RCRD2
has_obo_namespace	disease_ontology
id	DOID:0111005
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	cone-rod dystrophy 2
notation	DOID:0111005
prefLabel	cone-rod dystrophy 2
subClassOf	http://purl.obolibrary.org/obo/DOID_0050572

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/120970	Online Mendelian Inheritance in Man	LOOM