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Details
Link-It Detail - Disease - Ocular Motility Disorders
Debug Stats
  • ### Total Build Time: 60 ms 44.201 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 409 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 1.059 KB
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 4.002 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.073 KB
  • CONCEPT_RELATIONSHIPS gt=26 ms Completed: 26 ms rowSize= 13.720 KB
  • CONCEPT_GENES gt=21 ms Completed: 21 ms rowSize= 18.174 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.159 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Ocular Motility Disorders C0028850
A-78 DISORDERS OF EYE MOVEMENTS
Definition (1)
Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear, and supranuclear disorders. Diseases of the eye muscles or oculomotor cranial nerves (III, IV, and VI) are considered infranuclear. Nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the BRAIN STEM. Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the CEREBRAL CORTEX; BASAL GANGLIA; CEREBELLUM; and BRAIN STEM. Ocular torticollis refers to a head tilt that is caused by an ocular misalignment. Opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., OPSOCLONUS-MYOCLONUS SYNDROME). (Adams et al., Principles of Neurology, 6th ed, p240)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Central Nervous System Diseases C0007682
img Cranial Nerve Diseases C0010266
img Eye Diseases C0015397
Children (9)
img Oculomotor Nerve Diseases C0028866
img Ophthalmoplegia, Chronic Progressive External C0162674
img Duane Retraction Syndrome C0013261
img Nystagmus, Pathologic C0028738
img Opsoclonus-Myoclonus Syndrome C0393626
img Strabismus C0038379
img Miller Fisher Syndrome C0393799
img Ophthalmoplegia C0029089
img Tolosa-Hunt Syndrome C0040381
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076823img Central Nervous System Diseases C0007682
img Nervous System Diseases C0027765img Cranial Nerve Diseases C00102663img Cranial Nerve Diseases C0010266
img Eye Diseases C0015397img Cranial Nerve Diseases C00102662img Eye Diseases C0015397
Relationships (116)

Relation Types:
diso_​to_​anat : 11
diso_​to_​chem : 1
diso_​to_​diso : 91
diso_​to_​phen : 2
diso_​to_​phys : 11


Relationships:
none : 60
classifies : 1
entry_​version_​of : 1
isa : 17
mapped_​to : 35
related_​to : 1
use : 1
Page Size
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO89img Complication Aspects C1171258
DISO_to_ANAT77img Muscle of orbit C0028863
DISO_to_ANAT60img Muscle of orbit C0028863
DISO_to_PHEN59img genetic aspects C0017399
DISO_to_DISO52img Complication Aspects C1171258
DISO_to_PHYS50img Eye Movement, Saccadic C0036019
DISO_to_PHEN46img genetic aspects C0017399
DISO_to_PHYS33img Eye Movements C0015413
DISO_to_PHYS31img Eye Movement, Saccadic C0036019
DISO_to_DISO26img Schizophrenia C0036341
DISO_to_DISO26img chemically induced C0007994
DISO_to_PHYS26img Pursuit, Smooth C0034158
DISO_to_PHYS24img Eye Movements C0015413
DISO_to_DISO21img Vision Disorders C0042790
DISO_to_PHYS20img Fixation, Ocular C0016183
DISO_to_DISO19img Multiple Sclerosis C0026769
DISO_to_DISO19img Schizophrenia C0036341
DISO_to_DISO19img chemically induced C0007994
DISO_to_ANAT18img Brain Stem C0006121
DISO_to_ANAT18img Pons C0032639
DISO_to_DISO18img A69 APRAXIAS C0003635
DISO_to_ANAT17img Brain C0006104
DISO_to_DISO17img Cerebrovascular accident C0038454
DISO_to_ANAT15img Tendon structure C0039508
DISO_to_DISO15img Diplopia C0012569
Genes (262)

Species:
human : 262
Page Size
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  Page 1 of 11
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SpeciesGeneGeneIdGene NameEvidence
HumanBLOC1S3388552biogenesis of lysosomal organelles complex-1, subunit 3
INFERRED, Score=800, UMLKSK CUI: C0028850
HumanNDUFS7374291NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
INFERRED, Score=800, UMLKSK CUI: C0028850
HumanUBR1197131ubiquitin protein ligase E3 component n-recognin 1
INFERRED, Score=800, UMLKSK CUI: C0028850
HumanBBS12166379Bardet-Biedl syndrome 12
INFERRED, Score=800, UMLKSK CUI: C0028850
HumanIMP5162540
INFERRED, Score=800, UMLKSK CUI: C0028850
HumanCLDN19149461claudin 19
INFERRED, Score=800, UMLKSK CUI: C0028850
HumanTTBK2146057tau tubulin kinase 2
INFERRED, Score=800, UMLKSK CUI: C0028850
HumanPRICKLE1144165prickle homolog 1 (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0028850
HumanC8orf38137682
INFERRED, Score=800, UMLKSK CUI: C0028850
HumanBBS5129880Bardet-Biedl syndrome 5
INFERRED, Score=800, UMLKSK CUI: C0028850
HumanTTC8123016tetratricopeptide repeat domain 8
INFERRED, Score=800, UMLKSK CUI: C0028850
HumanLRRK2120892leucine-rich repeat kinase 2
INFERRED, Score=800, UMLKSK CUI: C0028850
HumanNDUFAF291942NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
INFERRED, Score=800, UMLKSK CUI: C0028850
HumanTMEM6791147transmembrane protein 67
INFERRED, Score=800, UMLKSK CUI: C0028850
HumanFRMD790167FERM domain containing 7
INFERRED, Score=800, UMLKSK CUI: C0028850
HumanHPS489781Hermansky-Pudlak syndrome 4
INFERRED, Score=800, UMLKSK CUI: C0028850
HumanATCAY85300ataxia, cerebellar, Cayman type
INFERRED, Score=800, UMLKSK CUI: C0028850
HumanHPS384343Hermansky-Pudlak syndrome 3
INFERRED, Score=800, UMLKSK CUI: C0028850
HumanPHF684295PHD finger protein 6
INFERRED, Score=800, UMLKSK CUI: C0028850
HumanARL684100ADP-ribosylation factor-like 6
INFERRED, Score=800, UMLKSK CUI: C0028850
HumanDTNBP184062dystrobrevin binding protein 1
INFERRED, Score=800, UMLKSK CUI: C0028850
HumanVANGL181839VANGL planar cell polarity protein 1
INFERRED, Score=800, UMLKSK CUI: C0028850
HumanCEP29080184centrosomal protein 290kDa
INFERRED, Score=800, UMLKSK CUI: C0028850
HumanL2HGDH79944L-2-hydroxyglutarate dehydrogenase
INFERRED, Score=800, UMLKSK CUI: C0028850
HumanHPS679803Hermansky-Pudlak syndrome 6
INFERRED, Score=800, UMLKSK CUI: C0028850
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0028850Ocular Motility Disorders0self