Health_ontology

Last uploaded: July 4, 2024

Preferred Name	cone-rod dystrophy 2
Synonyms	retinal cone-rod dystrophy 2 RCRD2 CORD2 cone-rod retinal dystrophy 2 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
alternative label	retinal cone-rod dystrophy 2 RCRD2 CORD2 cone-rod retinal dystrophy 2 CRD2
database_cross_reference	GARD:6145 MIM:120970
definition	A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13.
has exact synonym	retinal cone-rod dystrophy 2 RCRD2 CORD2 cone-rod retinal dystrophy 2 CRD2
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

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0111005	DOID	SAME_URI
http://purl.obolibrary.org/obo/DOID_0111005	HHEAR	SAME_URI
http://purl.obolibrary.org/obo/DOID_0111005	NIFSTD	SAME_URI
http://purl.obolibrary.org/obo/DOID_0111005	FNS-H	SAME_URI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C162399	NCIT	LOOM
http://purl.bioontology.org/ontology/OMIM/120970	OMIM	LOOM
http://purl.obolibrary.org/obo/DOID_0111005	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0111005	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0111005	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0111005	FNS-H	LOOM
http://identifiers.org/omim/120970	REXO	LOOM
http://identifiers.org/omim/120970	GEXO	LOOM
http://identifiers.org/omim/120970	RETO	LOOM
http://purl.obolibrary.org/obo/NCIT_C162399	BERO	LOOM
http://www.semanticweb.org/hamide/ontologies/2019/3/IRD_1_4_2	HAMIDEHSGH	LOOM
http://purl.obolibrary.org/obo/MONDO_0007362	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007362	DOVES	LOOM
http://purl.obolibrary.org/obo/OMIM_120970	CCO	LOOM