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Details
Link-It Detail - Disease - Ophthalmoplegia
Debug Stats
  • ### Total Build Time: 167 ms 46.088 KB
  • CONCEPT_NAME gt=10 ms Completed: 10 ms rowSize= 328 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 439 bytes
  • 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
  • CONCEPT_SEMANTIC_TYPE gt=2 ms Completed: 2 ms rowSize= 184 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=12 ms Completed: 12 ms rowSize= 988 bytes
  • CONCEPT_CHILDREN gt=9 ms Completed: 9 ms rowSize= 1.008 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=19 ms Completed: 19 ms rowSize= 6.641 KB
  • CONCEPT_RELATIONSHIPS gt=74 ms Completed: 74 ms rowSize= 12.774 KB
  • CONCEPT_GENES gt=38 ms Completed: 38 ms rowSize= 22.595 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.149 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Ophthalmoplegia C0029089
Definition (1)
Weakness or paralysis of at least one of the muscles controlling the movement of the eye. It results from degeneration of the muscles or the neural pathways involved in the eye movement. Representative disorders causing ophthalmoplegia include ocular myopathies and multiple sclerosis.
Semantic Types (1)
Sign or Symptom (T184)
Parents (2)
img Ocular Motility Disorders C0028850
img Paralysis C0522224
Children (2)
img Supranuclear Palsy, Progressive C0038868
img Ophthalmoplegia, Chronic Progressive External C0162674
Ancestral Roots
RootRoot Plus OneDepthParent
img Eye Diseases C0015397img Ocular Motility Disorders C00288503img Ocular Motility Disorders C0028850
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076824img Ocular Motility Disorders C0028850
img Nervous System Diseases C0027765img Cranial Nerve Diseases C00102664img Ocular Motility Disorders C0028850
img Nervous System Diseases C0027765img Neurologic Manifestations C00278544img Paralysis C0522224
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370885img Paralysis C0522224
Relationships (64)

Relation Types:
diso_​to_​anat : 6
diso_​to_​chem : 6
diso_​to_​diso : 48
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 43
isa : 9
mapped_​to : 10
used_​for : 2
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO56img Complication Aspects C1171258
DISO_to_DISO53img Complication Aspects C1171258
DISO_to_ANAT45img Muscle of orbit C0028863
DISO_to_PHEN40img genetic aspects C0017399
DISO_to_ANAT33img Muscle of orbit C0028863
DISO_to_DISO30img Migraine Disorders C0149931
DISO_to_PHEN30img genetic aspects C0017399
DISO_to_DISO24img Migraine Disorders C0149931
DISO_to_DISO23img Strabismus C0038379
DISO_to_DISO20img Blepharoptosis C0005745
DISO_to_DISO18img Blepharoptosis C0005745
DISO_to_DISO17img Oculomotor Nerve Diseases C0028866
DISO_to_DISO13img Blind Vision C0456909
DISO_to_DISO12img Miller Fisher Syndrome C0393799
DISO_to_DISO11img ANEURYSM INTRACRANIAL C0007766
DISO_to_DISO11img Abducens Nerve Diseases C0271355
DISO_to_DISO11img Ataxia C0004134
DISO_to_CHEM10img Ganglioside C0017082
DISO_to_CHEM10img Kinesin C0085139
DISO_to_CHEM10img Nerve Tissue Proteins C0027759
DISO_to_DISO10img Pain C0030193
DISO_to_PHYS10img Mutation C0026882
DISO_to_ANAT9img Oculomotor Nerve C0028864
DISO_to_DISO9img Intracranial Aneurysm C0007766
DISO_to_DISO9img Oculomotor Nerve Diseases C0028866
Genes (45)

Species:
human : 45
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanNDUFS7374291NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
img OMIM, Score=1000, UMLKSK CUI: C0029089
HumanIMP5162540
INFERRED, Score=800, UMLKSK CUI: C0029089
HumanC8orf38137682
img OMIM, Score=1000, UMLKSK CUI: C0029089
HumanLRRK2120892leucine-rich repeat kinase 2
INFERRED, Score=800, UMLKSK CUI: C0029089
HumanROBO364221roundabout, axon guidance receptor, homolog 3 (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0029089
HumanC10orf256652chromosome 10 open reading frame 2
img OMIM, Score=1000, UMLKSK CUI: C0029089
img GENERIF, Score=1000, Pubmed Id: 18396044, UMLKSK CUI: C0029089
HumanAPTX54840aprataxin
INFERRED, Score=800, UMLKSK CUI: C0029089
HumanMINK150488misshapen-like kinase 1
INFERRED, Score=800, UMLKSK CUI: C0029089
HumanOSTM128962osteopetrosis associated transmembrane protein 1
img OMIM, Score=1000, UMLKSK CUI: C0029089
HumanTARDBP23435TAR DNA binding protein
INFERRED, Score=800, UMLKSK CUI: C0029089
HumanSLC9A610479solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
img OMIM, Score=1000, UMLKSK CUI: C0029089
HumanTCIRG110312T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
img OMIM, Score=1000, UMLKSK CUI: C0029089
HumanWNT37473wingless-type MMTV integration site family, member 3
INFERRED, Score=800, UMLKSK CUI: C0029089
HumanTKT7086transketolase
img OMIM, Score=1000, UMLKSK CUI: C0029089
HumanTFAM7019transcription factor A, mitochondrial
INFERRED, Score=800, UMLKSK CUI: C0029089
HumanSURF16834surfeit 1
img OMIM, Score=1000, UMLKSK CUI: C0029089
HumanSNCA6622synuclein, alpha (non A4 component of amyloid precursor)
INFERRED, Score=800, UMLKSK CUI: C0029089
HumanSDHA6389succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
img OMIM, Score=1000, UMLKSK CUI: C0029089
HumanATXN76314ataxin 7
INFERRED, Score=800, UMLKSK CUI: C0029089
HumanATXN26311ataxin 2
img OMIM, Score=1000, UMLKSK CUI: C0029089
HumanPOLRMT5442polymerase (RNA) mitochondrial (DNA directed)
INFERRED, Score=800, UMLKSK CUI: C0029089
HumanPOLG5428polymerase (DNA directed), gamma
img GENERIF, Score=1000, Pubmed Id: 18585914, UMLKSK CUI: C0029089
HumanPIN15300peptidylprolyl cis/trans isomerase, NIMA-interacting 1
INFERRED, Score=800, UMLKSK CUI: C0029089
HumanOPA14976optic atrophy 1 (autosomal dominant)
img GENERIF, Score=1000, Pubmed Id: 15531309, UMLKSK CUI: C0029089
img OMIM, Score=1000, UMLKSK CUI: C0029089
img OMIM, Score=1000, UMLKSK CUI: C0029089
HumanNSF4905N-ethylmaleimide-sensitive factor
INFERRED, Score=800, UMLKSK CUI: C0029089
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0029089Ophthalmoplegia0self