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Color Vision Defects

Go to external page http://purl.bioontology.org/ontology/MESH/D003117

Defects of color vision are mainly hereditary traits but can be secondary to acquired or developmental abnormalities in the CONES (RETINA). Severity of hereditary defects of color vision depends on the degree of mutation of the ROD OPSINS genes (on X CHROMOSOME and CHROMOSOME 3) that code the photopigments for red, green and blue.

Severely deficient color perception, typically with monochromacy and reduced visual acuity. The atypical form can include normal visual acuity with pseudomonochromacy.

Instance info

Synonyms

Protan Defect, Vision Defects, Color, Color Blindness, Blue, Defect, Color Vision, Vision Defect, Color, Color Blindness, Blindness, Color, Farbsehstörungen (DE), Vision Deficiency, Color, Red-Green Color Blindness, Color Blindness, Green, Vision Deficiencies, Color, Deficiencies, Color Vision, Green Color Blindness, Color Blindness, Red-Green, Deutan Defect, Color Blindness, Red, Tritan Defect, Color Blindness, Red Green, Color Vision Deficiency, Defects, Color Vision, Deficiency, Color Vision, Red Color Blindness, Inherited Color Blindness, Monochromasie (DE), Defect, Deutan, Blue Color Blindness, Color Vision Defect, Color Blindness, Acquired, Achromatopsie (DE), Color Blindness, Inherited, Farbenblindheit (DE), Achromatopsia, Color Vision Deficiencies, Achromatopsias, Farbenfehlsichtigkeit (DE), Acquired Color Blindness, Monochromatopsia, Einfarbensehen (DE)

AQL

BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

DC

1

DX

19900101

FX

D017949,D012164

HN

90; was COLOR BLINDNESS 1963-89

MDA

19990101

MMR

20180629

MN

C11.270.151.500,C11.966.256,C23.888.592.763.941.256,C10.597.751.941.256

OL

use COLOR VISION DEFECTS to search COLOR BLINDNESS 1966-89

PM

90; was COLOR BLINDNESS 1963-89

QB

http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000151,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

RO

http://purl.bioontology.org/ontology/MESH/D012164,http://purl.bioontology.org/ontology/MESH/D017949,http://purl.bioontology.org/ontology/MESH/D003118

SIB

http://purl.bioontology.org/ontology/MESH/D062026,http://purl.bioontology.org/ontology/MESH/D055955,http://purl.bioontology.org/ontology/MESH/D000550,http://purl.bioontology.org/ontology/MESH/D015354,http://purl.bioontology.org/ontology/MESH/D006423,http://purl.bioontology.org/ontology/MESH/D012607,http://purl.bioontology.org/ontology/MESH/D020795,http://purl.bioontology.org/ontology/MESH/D009755,http://purl.bioontology.org/ontology/MESH/D004172,http://purl.bioontology.org/ontology/MESH/D001766

TERMUI

T841142,T371310,T371311,T371312,T371302,T371303,T371304,T371305,T371306,T371307,T371308,T371309,T009095,T009096

TH

NLM (1990),GHR (2014),NLM (2000),NLM (1966),NLM (2014)

cui

C0242225,C0009398,C0152200,C0155018,C0155017,C0239777,C0155016,C0155015,C0751042,C0751043

hasSTY

http://purl.bioontology.org/ontology/STY/T047,http://purl.bioontology.org/ontology/STY/T020

mapped from

http://purl.bioontology.org/ontology/MESH/C564440,http://purl.bioontology.org/ontology/MESH/C536238,http://purl.bioontology.org/ontology/MESH/C536128,http://purl.bioontology.org/ontology/MESH/C536129,http://purl.bioontology.org/ontology/MESH/C567759,http://purl.bioontology.org/ontology/MESH/C564206,http://purl.bioontology.org/ontology/MESH/C538165,http://purl.bioontology.org/ontology/MESH/C536021

tui

T047,T020

Instance relations

Types