Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/604116 http://purl.bioontology.org/ontology/OMIM/604116
Preferred Name	CONE-ROD DYSTROPHY 3
Synonyms	CORD3
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CORD3
prefLabel	CONE-ROD DYSTROPHY 3
Gene Symbol	ARMD2 ABCA4 RP19 STGD1 ABCR CORD3 FFM See more See less
notation	604116
Scope Statement	Onset of disease 2-27 years (median age, 9 years) [MISCELLANEOUS] Caused by mutation in the ATP-binding transporter, retina-specific gene (ABCA4, 601691.0001) [MOLECULAR BASIS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU048835 http://purl.bioontology.org/ontology/OMIM/MTHU042237 http://purl.bioontology.org/ontology/OMIM/MTHU065454 http://purl.bioontology.org/ontology/OMIM/MTHU040797 http://purl.bioontology.org/ontology/OMIM/MTHU074830 http://purl.bioontology.org/ontology/OMIM/MTHU074829 http://purl.bioontology.org/ontology/OMIM/MTHU074831 http://purl.bioontology.org/ontology/OMIM/MTHU068921 http://purl.bioontology.org/ontology/OMIM/MTHU001845 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	1p22.1
tui	T047
cui	C1858806

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