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Details
Link-It Detail - Disease - PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
Debug Stats
  • ### Total Build Time: 23 ms 17.840 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 478 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=19 ms Completed: 19 ms rowSize= 12.330 KB
  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 3.750 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.223 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE C1850303
Relationships (53)

Relation Types:
diso_​to_​diso : 53


Relationships:
alias_​of : 1
manifestation_​of : 52
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Absent reflex C0234146
DISO_to_DISOmanifestation_ofimg Acquired claw foot C0158461
DISO_to_DISOmanifestation_ofimg Appendicular Ataxia C0750937
DISO_to_DISOmanifestation_ofimg Axonal sensory neuropathy C1842587
DISO_to_DISOmanifestation_ofimg Blepharoptosis C0005745
DISO_to_DISOmanifestation_ofimg Bradykinesia C0233565
DISO_to_DISOmanifestation_ofimg Cardiac fibrillation C0232197
DISO_to_DISOmanifestation_ofimg Cardiomyopathy (in some patients) C3278621
DISO_to_DISOmanifestation_ofimg Caused by mutation in the DNA polymerase-gamma gene (POLG, 174763.0002) C1843877
DISO_to_DISOmanifestation_ofimg Cerebrospinal fluid (CSF) with increased protein C1806780
DISO_to_DISOmanifestation_ofimg Chronic progressive external ophthalmoplegia C0162674
DISO_to_DISOmanifestation_ofimg Decreased Reflex C0151888
DISO_to_DISOmanifestation_ofimg Decreased activity of cytochrome c oxidase seen on muscle biopsy C3278616
DISO_to_DISOmanifestation_ofimg Decreased sensory nerve action potentials C1850305
DISO_to_DISOmanifestation_ofimg Deglutition Disorders C0011168
DISO_to_DISOmanifestation_ofimg Depressed mood C0344315
DISO_to_DISOmanifestation_ofimg Distal muscle weakness C0427065
DISO_to_DISOmanifestation_ofimg Distal sensory loss of vibration and proprioception C1850304
DISO_to_DISOmanifestation_ofimg Dysarthria C0013362
DISO_to_DISOmanifestation_ofimg Dyschromatopsia (1 patient) C3278619
DISO_to_DISOmanifestation_ofimg Dysphonia C1527344
DISO_to_DISOmanifestation_ofimg EMG shows myopathic changes C1864713
DISO_to_DISOmanifestation_ofimg EXERCISE INTOLERANCE C0241885
DISO_to_DISOmanifestation_ofimg Facial Paresis C0427055
DISO_to_DISOmanifestation_ofimg Gait Ataxia C0751837
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanC10orf256652chromosome 10 open reading frame 2
img OMIM, Score=1000, UMLKSK CUI: C1850303
HumanPOLG5428polymerase (DNA directed), gamma
img OMIM, Score=1000, UMLKSK CUI: C1850303
img OMIM, Score=770, UMLKSK CUI: C1850303
HumanSLC25A4291solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
img OMIM, Score=770, UMLKSK CUI: C1850303
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1850303PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE0self