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Details
Link-It Detail - Disease - Optic Atrophies, Hereditary
Debug Stats
  • ### Total Build Time: 154 ms 27.367 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 352 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 419 bytes
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  • CONCEPT_CHILDREN gt=12 ms Completed: 12 ms rowSize= 1.422 KB
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  • CONCEPT_RELATIONSHIPS gt=93 ms Completed: 93 ms rowSize= 11.452 KB
  • CONCEPT_GENES gt=9 ms Completed: 9 ms rowSize= 2.934 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.161 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Optic Atrophies, Hereditary C0029125
Definition (1)
Hereditary conditions that feature progressive visual loss in association with optic atrophy. Relatively common forms include autosomal dominant optic atrophy (OPTIC ATROPHY, AUTOSOMAL DOMINANT) and Leber hereditary optic atrophy (OPTIC ATROPHY, HEREDITARY, LEBER).
Semantic Types (1)
Congenital Abnormality (T019)
Parents (3)
img Eye Diseases, Hereditary C0015398
img Optic Atrophy C0029124
img Heredodegenerative Disorders, Nervous System C0751870
Children (3)
img Optic Atrophy, Hereditary, Leber C0917796
img Optic Atrophy, Autosomal Dominant C0338508
img Wolfram Syndrome C0043207
Ancestral Roots
RootRoot Plus OneDepthParent
img Eye Diseases C0015397img Eye Diseases, Hereditary C00153983img Eye Diseases, Hereditary C0015398
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Eye Diseases, Hereditary C0015398
img Nervous System Diseases C0027765img Cranial Nerve Diseases C00102665img Optic Atrophy C0029124
img Eye Diseases C0015397img Optic Nerve Diseases C00291324img Optic Atrophy C0029124
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248514img Heredodegenerative Disorders, Nervous System C0751870
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Heredodegenerative Disorders, Nervous System C0751870
Relationships (25)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 2
diso_​to_​diso : 18
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 7
classifies : 1
is_​associated_​anatomic_​site_​of : 1
is_​finding_​of_​disease : 1
isa : 3
mapped_​to : 12
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN19img genetic aspects C0017399
DISO_to_PHEN10img genetic aspects C0017399
DISO_to_PHYS6img Mutation C0026882
DISO_to_PHYS5img Mutation C0026882
DISO_to_CHEM4img GTP Phosphohydrolases C0018296
DISO_to_CHEM4img Guanosine Triphosphate Phosphohydrolases C0018296
DISO_to_DISO4img Complication Aspects C1171258
DISO_to_ANATis_associated_anatomic_site_ofimg Eye C0015392
DISO_to_DISOmapped_toimg Atrophies, Hereditary Optic C0029125
DISO_to_DISOmapped_toimg Atrophy of optic disc C1744705
DISO_to_DISOmapped_toimg Berk Tabatznik syndrome C2930899
DISO_to_DISOmapped_toimg Deafness optic atrophy syndrome C2931440
DISO_to_DISOmapped_toimg Hagemoser Weinstein Bresnick syndrome C2931553
DISO_to_DISOis_finding_of_diseaseimg Hereditary Lesion C1708351
DISO_to_DISOisaimg Hereditary motor and sensory neuropathy with optic atrophy (disorder) C0393807
DISO_to_DISOmapped_toimg OPTIC ATROPHY 1 AND DEAFNESS C1852267
DISO_to_DISOmapped_toimg OPTIC ATROPHY 6 (disorder) C1850281
DISO_to_DISOmapped_toimg OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT C1833809
DISO_to_DISOmapped_toimg OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE C1850270
DISO_to_DISOisaimg Optic Atrophy, Autosomal Dominant C0338508
DISO_to_DISOisaimg Optic Atrophy, Hereditary, Leber C0917796
DISO_to_DISOclassifiesimg Other disease of eye C0497217
DISO_to_DISOmapped_toimg Renal dysplasia and retinal aplasia (disorder) C0403553
DISO_to_DISOmapped_toimg Spastic Paraplegia, Optic Atrophy, And Dementia C1866849
DISO_to_DISOmapped_toimg Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal C1864185
Genes (4)

Species:
human : 4
SpeciesGeneGeneIdGene NameEvidence
HumanOPA380207optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
INFERRED, Score=800, UMLKSK CUI: C0029125
HumanNDUFB1154539NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa
INFERRED, Score=800, UMLKSK CUI: C0029125
HumanOPA14976optic atrophy 1 (autosomal dominant)
INFERRED, Score=800, UMLKSK CUI: C0029125
HumanNDUFA14694NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
INFERRED, Score=800, UMLKSK CUI: C0029125
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0029125Optic Atrophies, Hereditary0self