Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615374 http://purl.bioontology.org/ontology/OMIM/615374
Preferred Name	CONE-ROD DYSTROPHY 18
Synonyms	CORD18
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CORD18
prefLabel	CONE-ROD DYSTROPHY 18
Gene Symbol	CORD18 RAB28
Scope Statement	Caused by mutation in the RAS-associated protein-28 gene (RAB28, 612994.0001) [MOLECULAR BASIS] Onset of symptoms in the second decade of life [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU044074 http://purl.bioontology.org/ontology/OMIM/MTHU044080 http://purl.bioontology.org/ontology/OMIM/MTHU044079 http://purl.bioontology.org/ontology/OMIM/MTHU036671 http://purl.bioontology.org/ontology/OMIM/MTHU044075 http://purl.bioontology.org/ontology/OMIM/MTHU069663 http://purl.bioontology.org/ontology/OMIM/MTHU044076 http://purl.bioontology.org/ontology/OMIM/MTHU002187 http://purl.bioontology.org/ontology/OMIM/MTHU044081 http://purl.bioontology.org/ontology/OMIM/MTHU044078 See more See less
tui	T047
Gene Locus	4p15.33
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615374
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3809299
OMIM Entry Type	3
OMIM MimType Value	pound

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