Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/602093 http://purl.bioontology.org/ontology/OMIM/602093
Preferred Name	CONE DYSTROPHY 3
Synonyms	CONE-ROD DYSTROPHY 14 COD3 CORD14 RETINAL CONE DYSTROPHY
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CONE-ROD DYSTROPHY 14 COD3 CORD14 RETINAL CONE DYSTROPHY
prefLabel	CONE DYSTROPHY 3
Gene Symbol	GUCA1A GCAP CORD14 COD3
Scope Statement	Intrafamilial phenotypic variability [MISCELLANEOUS] Onset in the first two decades of life [MISCELLANEOUS] Caused by mutation in the guanylate cyclase activator 1A gene (GUCA1A, 600364.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU068324 http://purl.bioontology.org/ontology/OMIM/MTHU068322 http://purl.bioontology.org/ontology/OMIM/MTHU058615 http://purl.bioontology.org/ontology/OMIM/MTHU029961 http://purl.bioontology.org/ontology/OMIM/MTHU036378 http://purl.bioontology.org/ontology/OMIM/MTHU068323 http://purl.bioontology.org/ontology/OMIM/MTHU054309 http://purl.bioontology.org/ontology/OMIM/MTHU054310 http://purl.bioontology.org/ontology/OMIM/MTHU049640 http://purl.bioontology.org/ontology/OMIM/MTHU058616 http://purl.bioontology.org/ontology/OMIM/MTHU068321 http://purl.bioontology.org/ontology/OMIM/MTHU068320 http://purl.bioontology.org/ontology/OMIM/MTHU050269 See more See less
tui	T047
Gene Locus	6p21.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	602093
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1865869
OMIM Entry Type	3
OMIM MimType Value	pound

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