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Details
Link-It Detail - Disease - Color Vision Defects
Debug Stats
  • ### Total Build Time: 44 ms 25.845 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 387 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
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Disease (2)
Color Vision Defects C0009398
Color vision defect
Definition (1)
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.
Semantic Types (2)
Disease or Syndrome (T047)
Laboratory or Test Result (T034)
Parents (1)
img Vision Disorders C0042790
Ancestral Roots
RootRoot Plus OneDepthParent
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370886img Vision Disorders C0042790
img Nervous System Diseases C0027765img Neurologic Manifestations C00278545img Vision Disorders C0042790
img Eye Diseases C0015397img Vision Disorders C00427903img Vision Disorders C0042790
Relationships (27)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 3
diso_​to_​diso : 15
diso_​to_​phen : 2
diso_​to_​phys : 6


Relationships:
none : 20
mapped_​to : 6
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHYS75img Color Perception C0009395
DISO_to_PHEN70img genetic aspects C0017399
DISO_to_PHEN68img genetic aspects C0017399
DISO_to_PHYS38img Color Perception C0009395
DISO_to_ANAT33img Retinal Cone C0206428
DISO_to_DISO20img chemically induced C0007994
DISO_to_CHEM17img Channel, Cyclic-Nucleotide Gated C0377993
DISO_to_PHYS16img Mutation C0026882
DISO_to_CHEM14img Ion Channel C0022009
DISO_to_DISO14img chemically induced C0007994
DISO_to_CHEM13img Photoreceptor Pigments, Retinal C0035323
DISO_to_DISO13img Complication Aspects C1171258
DISO_to_PHYS13img CV - Color vision C0086032
DISO_to_DISO11img DEGENERATION OF RETINA C0035304
DISO_to_PHYS10img Contrast Sensitivity C0009928
DISO_to_DISO9img Complication Aspects C1171258
DISO_to_DISO9img DIS OCCUP C0028797
DISO_to_DISO9img EXPOSURE OCCUP C0028798
DISO_to_DISO9img Retinal Diseases C0035309
DISO_to_PHYS9img Mutation C0026882
DISO_to_DISOmapped_toimg ACHM 3 C1849792
DISO_to_DISOmapped_toimg Achromatopsia 1 C0302129
DISO_to_DISOmapped_toimg Achromatopsia 2 C1857618
DISO_to_DISOmapped_toimg Achromatopsia incomplete, X-linked C2931753
DISO_to_DISOpermuted_term_ofimg Color Vision Defects C0009398
Genes (6)

Species:
human : 6
SpeciesGeneGeneIdGene NameEvidence
HumanSAR1B51128SAR1 homolog B (S. cerevisiae)
img OMIM, Score=909, UMLKSK CUI: C0009398
HumanNR2E310002nuclear receptor subfamily 2, group E, member 3
img OMIM, Score=909, UMLKSK CUI: C0009398
img OMIM, Score=909, UMLKSK CUI: C0009398
HumanMFN29927mitofusin 2
img OMIM, Score=1000, UMLKSK CUI: C0009398
HumanRPGR6103retinitis pigmentosa GTPase regulator
img OMIM, Score=862, UMLKSK CUI: C0009398
HumanOPN1MW2652opsin 1 (cone pigments), medium-wave-sensitive
img GAD, Score=1000, Pubmed Id: 1302020, UMLKSK CUI: C0009398
HumanOPN1SW611opsin 1 (cone pigments), short-wave-sensitive
img GENERIF, Score=923, Pubmed Id: 16961973, UMLKSK CUI: C0009398
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0009398Color Vision Defects0self