Digital medicine Outcomes Value Set (DOVeS) Ontology - cone-rod dystrophy 2 - Classes | NCBO BioPortal

Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

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Preferred Name	cone-rod dystrophy 2
Synonyms	cone-rod dystrophy cone-rod retinal dystrophy retinal cone-rod dystrophy cone-rod retinal dystrophy-2 CRD2 cone-rod dystrophy caused by mutation in CRX CORD2 cone-rod dystrophy type 2 RCRD2 retinal cone-rod dystrophy 2 CRX cone-rod dystrophy cone-rod retinal dystrophy 2 cone-rod dystrophy 2
Definitions	Any cone-rod dystrophy in which the cause of the disease is a mutation in the CRX gene.
ID	http://purl.obolibrary.org/obo/MONDO_0007362
altLabel	cone-rod dystrophy cone-rod retinal dystrophy retinal cone-rod dystrophy cone-rod retinal dystrophy-2 CRD2 cone-rod dystrophy caused by mutation in CRX CORD2 cone-rod dystrophy type 2 RCRD2 retinal cone-rod dystrophy 2 CRX cone-rod dystrophy cone-rod retinal dystrophy 2 cone-rod dystrophy 2
definition	Any cone-rod dystrophy in which the cause of the disease is a mutation in the CRX gene.
has_exact_synonym	cone-rod retinal dystrophy-2 CRD2 cone-rod dystrophy caused by mutation in CRX CORD2 cone-rod dystrophy type 2 RCRD2 retinal cone-rod dystrophy 2 CRX cone-rod dystrophy cone-rod retinal dystrophy 2 cone-rod dystrophy 2
has_related_synonym	cone-rod dystrophy cone-rod retinal dystrophy retinal cone-rod dystrophy
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4521
label	cone-rod dystrophy 2
prefixIRI	MONDO:0007362
prefLabel	cone-rod dystrophy 2
textual definition	Any cone-rod dystrophy in which the cause of the disease is a mutation in the CRX gene.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0019200 http://purl.obolibrary.org/obo/MONDO_0015993

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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/MONDO_0007362	MONDO	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	DDSS	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/OMIM_120970	CCO	LOOM