Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/610478 http://purl.bioontology.org/ontology/OMIM/610478
Preferred Name	RETINAL CONE DYSTROPHY 4
Synonyms	RCD4
Type	http://www.w3.org/2002/07/owl#Class

altLabel	RCD4
prefLabel	RETINAL CONE DYSTROPHY 4
Gene Symbol	RCD4 CACNA2D4
Scope Statement	Caused by mutation in the calcium channel, voltage-dependent, alpha-2/delta subunit 4 gene (CACNA2D4, 608171.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU068796 http://purl.bioontology.org/ontology/OMIM/MTHU036378 http://purl.bioontology.org/ontology/OMIM/MTHU057308 http://purl.bioontology.org/ontology/OMIM/MTHU057307 http://purl.bioontology.org/ontology/OMIM/MTHU054579 http://purl.bioontology.org/ontology/OMIM/MTHU054581 http://purl.bioontology.org/ontology/OMIM/MTHU054580 See more See less
tui	T047
Gene Locus	12p13.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	610478
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1864849
OMIM Entry Type	3
OMIM MimType Value	pound

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