Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/303700 http://purl.bioontology.org/ontology/OMIM/303700
Preferred Name	BLUE CONE MONOCHROMACY
Synonyms	BLUE CONE MONOCHROMATISM CONE DYSTROPHY 5, X-LINKED COLORBLINDNESS, BLUE-MONO-CONE-MONOCHROMATIC TYPE COD5 BCM CBBM
Type	http://www.w3.org/2002/07/owl#Class

altLabel	BLUE CONE MONOCHROMATISM CONE DYSTROPHY 5, X-LINKED COLORBLINDNESS, BLUE-MONO-CONE-MONOCHROMATIC TYPE COD5 BCM CBBM See more See less
prefLabel	BLUE CONE MONOCHROMACY
Gene Symbol	RCP CBBM CBP OPN1LW
notation	303700
Scope Statement	Caused by mutation in the controller of the OPN1LW and OPN1MW genes (300824) [MOLECULAR BASIS] Caused by mutation in both the opsin 1, long-wave-sensitive (red cone pigment) gene (OPN1LW, 300822.0001) and opsin 1, medium-wave-sensitive (green cone pigment) gene (OPN1MW, 300821.0002) [MOLECULAR BASIS] Progressive disease is seen in some patients [MISCELLANEOUS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU006805
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047 http://purl.bioontology.org/ontology/STY/T019
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036427 http://purl.bioontology.org/ontology/OMIM/MTHU003224 http://purl.bioontology.org/ontology/OMIM/MTHU036378 http://purl.bioontology.org/ontology/OMIM/MTHU032924 http://purl.bioontology.org/ontology/OMIM/MTHU032925 http://purl.bioontology.org/ontology/OMIM/MTHU068146 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	Xq28
tui	T047 T019
cui	C3887937 C0339537

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