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Details
Link-It Detail - Disease - Optic Atrophy, Hereditary, Leber
Debug Stats
  • ### Total Build Time: 132 ms 27.323 KB
  • CONCEPT_NAME gt=10 ms Completed: 10 ms rowSize= 362 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
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  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 2.724 KB
  • CONCEPT_XREFS gt=11 ms Completed: 11 ms rowSize= 1.166 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Optic Atrophy, Hereditary, Leber C0917796
Definition (1)
A hereditary disorder caused by mitochondrial mutations, resulting in the degeneration of the retinal ganglion cells and optic atrophy. It is characterized by an acute or subacute loss of central vision. It may initially affect one eye only, but eventually the central loss of vision becomes bilateral.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Mitochondrial Diseases C0751651
img Optic Atrophies, Hereditary C0029125
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img Mitochondrial Diseases C0751651
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Optic Atrophies, Hereditary C0029125
img Eye Diseases C0015397img Eye Diseases, Hereditary C00153984img Optic Atrophies, Hereditary C0029125
img Nervous System Diseases C0027765img Cranial Nerve Diseases C00102666img Optic Atrophies, Hereditary C0029125
img Eye Diseases C0015397img Optic Nerve Diseases C00291325img Optic Atrophies, Hereditary C0029125
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248515img Optic Atrophies, Hereditary C0029125
Relationships (60)

Relation Types:
diso_​to_​anat : 5
diso_​to_​chem : 9
diso_​to_​diso : 39
diso_​to_​phen : 2
diso_​to_​phys : 5


Relationships:
none : 23
is_​associated_​anatomic_​site_​of : 1
is_​finding_​of_​disease : 1
manifestation_​of : 31
mapped_​to : 1
permuted_​term_​of : 1
used_​for : 2
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN220img genetic aspects C0017399
DISO_to_PHEN166img genetic aspects C0017399
DISO_to_CHEM88img DNA, Mitochondrial C0012929
DISO_to_CHEM64img DNA, Mitochondrial C0012929
DISO_to_PHYS53img Mutation C0026882
DISO_to_PHYS49img Mutation C0026882
DISO_to_DISO33img Complication Aspects C1171258
DISO_to_PHYS32img Point Mutation C0162735
DISO_to_CHEM31img Cytochrome c Reductase C0027293
DISO_to_CHEM31img NADH Dehydrogenase C0027293
DISO_to_DISO30img Complication Aspects C1171258
DISO_to_DISO28img Blindness C0456909
DISO_to_ANAT21img Mitochondria C0026237
DISO_to_PHYS17img Mutation, Point C0162735
DISO_to_ANAT15img Mitochondria C0026237
DISO_to_DISO15img Blind Vision C0456909
DISO_to_CHEM14img Carrier Protein C0007292
DISO_to_CHEM13img Eye Proteins C0015416
DISO_to_CHEM11img Electron Transport Complex I C2363240
DISO_to_CHEM11img Eye Proteins C0015416
DISO_to_ANAT10img Optic Nerve C0029130
DISO_to_ANAT10img Retina C0035298
DISO_to_CHEM10img Proteins C0033684
DISO_to_ANATis_associated_anatomic_site_ofimg Eye C0015392
DISO_to_DISOmanifestation_ofimg Arrhythmias, Cardiac C0003811
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanNDUFB1154539NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa
img GENERIF, Score=710, Pubmed Id: 17292333, UMLKSK CUI: C0917796
HumanNDUFA14694NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
img GENERIF, Score=1000, Pubmed Id: 12084895, UMLKSK CUI: C0917796
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0917796Optic Atrophy, Hereditary, Leber0self