Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	OPSIN 1, MEDIUM-WAVE-SENSITIVE
Synonyms	GCP CONE DYSTROPHY 5, X-LINKED BLUE CONE MONOCHROMACY OPN1MW GREEN CONE PIGMENT DEUTERANOMALY COLORBLINDNESS, DEUTAN
ID	http://purl.bioontology.org/ontology/OMIM/300821
altLabel	GCP CONE DYSTROPHY 5, X-LINKED BLUE CONE MONOCHROMACY OPN1MW GREEN CONE PIGMENT DEUTERANOMALY COLORBLINDNESS, DEUTAN
cui	C4016499 C3887938 C3887937 C1415024 C0339537
Gene Locus	Xq28
Gene Symbol	CBBM GCP OPN1MW CBD
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/300821.0006 http://purl.bioontology.org/ontology/OMIM/300821.0002 http://purl.bioontology.org/ontology/OMIM/300821.0004 http://purl.bioontology.org/ontology/OMIM/300821.0003 http://purl.bioontology.org/ontology/OMIM/300821.0001 http://purl.bioontology.org/ontology/OMIM/300821.0005
MIMTYPEMEANING	Gene with known sequence
notation	300821
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	OPSIN 1, MEDIUM-WAVE-SENSITIVE
tui	T047 T033 T019 T028

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/ICD10CM/H53.53	ICD10CM	CUI
http://purl.bioontology.org/ontology/MESH/C536238	MESH	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/77479002	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/77479002	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/789676005	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/789676005	SCTSPA	CUI
http://purl.bioontology.org/ontology/RCD/X00e8	RCD	CUI
http://purl.bioontology.org/ontology/SNMI/DA-74744	SNMI	CUI
http://www.orpha.net/ORDO/Orphanet_124012	ORDO	LOOM
http://www.orpha.net/ORDO/Orphanet_124012	ORDO	LOOM