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Details
Link-It Detail - Disease - Ophthalmoplegia, Chronic Progressive External
Debug Stats
  • ### Total Build Time: 163 ms 43.315 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 462 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 592 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=14 ms Completed: 14 ms rowSize= 1.403 KB
  • CONCEPT_CHILDREN gt=10 ms Completed: 10 ms rowSize= 559 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=34 ms Completed: 34 ms rowSize= 14.326 KB
  • CONCEPT_RELATIONSHIPS gt=43 ms Completed: 43 ms rowSize= 6.328 KB
  • CONCEPT_GENES gt=36 ms Completed: 36 ms rowSize= 18.293 KB
  • CONCEPT_XREFS gt=15 ms Completed: 15 ms rowSize= 1.179 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Ophthalmoplegia, Chronic Progressive External C0162674
Chronic progressive external ophthalmoplegia
Definition (1)
A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Ocular Motility Disorders C0028850
img Ophthalmoplegia C0029089
img Mitochondrial Myopathies C0162670
Children (1)
img Kearns-Sayre Syndrome C0022541
Ancestral Roots
RootRoot Plus OneDepthParent
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 Eye Diseases C0015397img Ocular Motility Disorders C00288503img Ocular Motility Disorders C0028850
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076825img Ophthalmoplegia C0029089
img Nervous System Diseases C0027765img Cranial Nerve Diseases C00102665img Ophthalmoplegia C0029089
img Eye Diseases C0015397img Ocular Motility Disorders C00288504img Ophthalmoplegia C0029089
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370886img Ophthalmoplegia C0029089
img Nervous System Diseases C0027765img Neurologic Manifestations C00278545img Ophthalmoplegia C0029089
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Mitochondrial Myopathies C0162670
img Nervous System Diseases C0027765img Neuromuscular Diseases C00278685img Mitochondrial Myopathies C0162670
img Musculoskeletal Diseases C0026857img Muscular Diseases C00268484img Mitochondrial Myopathies C0162670
Relationships (13)

Relation Types:
diso_​to_​chem : 4
diso_​to_​diso : 5
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 10
classifies : 1
mapped_​to : 1
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN70img genetic aspects C0017399
DISO_to_PHEN62img genetic aspects C0017399
DISO_to_CHEM32img DNA, Mitochondrial C0012929
DISO_to_CHEM31img DNA, Mitochondrial C0012929
DISO_to_PHYS28img Mutation C0026882
DISO_to_CHEM21img DNA-Directed DNA Polymerase C0012892
DISO_to_DISO20img Complication Aspects C1171258
DISO_to_CHEM18img DNA Helicases C0920283
DISO_to_DISO17img Complication Aspects C1171258
DISO_to_PHYS14img Mutation C0026882
DISO_to_DISOpermuted_term_ofimg Chronic progressive external ophthalmoplegia C0162674
DISO_to_DISOclassifiesimg Other disease of eye C0497217
DISO_to_DISOmapped_toimg PEOA5 C2751319
Genes (10)

Species:
human : 10
SpeciesGeneGeneIdGene NameEvidence
HumanC10orf256652chromosome 10 open reading frame 2
img GENERIF, Score=884, Pubmed Id: 17722119, UMLKSK CUI: C0162674
img GENERIF, Score=1000, Pubmed Id: 18971204, UMLKSK CUI: C0162674
HumanAPTX54840aprataxin
img OMIM, Score=1000, UMLKSK CUI: C0162674
HumanTFAM7019transcription factor A, mitochondrial
img GENERIF, Score=884, Pubmed Id: 12921794, UMLKSK CUI: C0162674
HumanSDHA6389succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
INFERRED, Score=800, UMLKSK CUI: C0162674
HumanATXN76314ataxin 7
INFERRED, Score=800, UMLKSK CUI: C0162674
HumanPOLRMT5442polymerase (RNA) mitochondrial (DNA directed)
img GENERIF, Score=884, Pubmed Id: 15258572, UMLKSK CUI: C0162674
HumanPOLG5428polymerase (DNA directed), gamma
img GENERIF, Score=1000, Pubmed Id: 15981013, UMLKSK CUI: C0162674
img GENERIF, Score=884, Pubmed Id: 17420318, UMLKSK CUI: C0162674
img GENERIF, Score=1000, Pubmed Id: 17725985, UMLKSK CUI: C0162674
img GAD, Score=1000, Pubmed Id: 12975295, UMLKSK CUI: C0162674
img GENERIF, Score=1000, Pubmed Id: 11897778, UMLKSK CUI: C0162674
img GENERIF, Score=756, Pubmed Id: 12565911, UMLKSK CUI: C0162674
img GENERIF, Score=1000, Pubmed Id: 14745080, UMLKSK CUI: C0162674
img GENERIF, Score=1000, Pubmed Id: 14694057, UMLKSK CUI: C0162674
img GENERIF, Score=923, Pubmed Id: 12210792, UMLKSK CUI: C0162674
img GENERIF, Score=756, Pubmed Id: 16682683, UMLKSK CUI: C0162674
HumanTRNI4565tRNA
img GENERIF, Score=1000, Pubmed Id: 17965958, UMLKSK CUI: C0162674
HumanRNR24550l-rRNA
img GENERIF, Score=1000, Pubmed Id: 16639504, UMLKSK CUI: C0162674
HumanSLC25A4291solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
img GENERIF, Score=1000, Pubmed Id: 15792871, UMLKSK CUI: C0162674
img GENERIF, Score=884, Pubmed Id: 12140186, UMLKSK CUI: C0162674
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0162674Ophthalmoplegia, Chronic Progressive External0self