Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	CONE-ROD DYSTROPHY 2
Synonyms	RCRD2 CONE-ROD DYSTROPHY CRD CONE-ROD RETINAL DYSTROPHY CORD2 CORD CRD2 RETINAL CONE-ROD DYSTROPHY
ID	http://purl.bioontology.org/ontology/OMIM/120970
altLabel	RCRD2 CONE-ROD DYSTROPHY CRD CONE-ROD RETINAL DYSTROPHY CORD2 CORD CRD2 RETINAL CONE-ROD DYSTROPHY
cui	C3489532
Gene Locus	19q13.3
Gene Symbol	LCA7 CORD2 CRX CRD
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	120970
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	CONE-ROD DYSTROPHY 2
tui	T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/D000071700	MESH	CUI
http://purl.bioontology.org/ontology/MSHFRE/D000071700	MSHFRE	CUI
http://purl.obolibrary.org/obo/MONDO_0007362	MONDO	LOOM
http://purl.obolibrary.org/obo/DOID_0111005	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0111005	DDSS	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C162399	NCIT	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	DOVES	LOOM
http://purl.obolibrary.org/obo/OMIM_120970	CCO	LOOM