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Details
Link-It Detail - Disease - Optic Atrophy
Debug Stats
  • ### Total Build Time: 270 ms 45.948 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 324 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 612 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=1 ms Completed: 1 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=10 ms Completed: 10 ms rowSize= 556 bytes
  • CONCEPT_CHILDREN gt=5 ms Completed: 5 ms rowSize= 565 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=10 ms Completed: 10 ms rowSize= 2.778 KB
  • CONCEPT_RELATIONSHIPS gt=182 ms Completed: 182 ms rowSize= 13.416 KB
  • CONCEPT_GENES gt=47 ms Completed: 47 ms rowSize= 26.387 KB
  • CONCEPT_XREFS gt=6 ms Completed: 6 ms rowSize= 1.147 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Optic Atrophy C0029124
Definition (1)
Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Optic Nerve Diseases C0029132
Children (1)
img Optic Atrophies, Hereditary C0029125
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Cranial Nerve Diseases C00102664img Optic Nerve Diseases C0029132
img Eye Diseases C0015397img Optic Nerve Diseases C00291323img Optic Nerve Diseases C0029132
Relationships (54)

Relation Types:
diso_​to_​anat : 7
diso_​to_​chem : 1
diso_​to_​diso : 43
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 22
classifies : 1
expanded_​form_​of : 1
is_​associated_​anatomic_​site_​of : 1
isa : 10
mapped_​to : 18
used_​for : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANAT27img Optic Disk C0029127
DISO_to_PHEN27img genetic aspects C0017399
DISO_to_DISO21img Complication Aspects C1171258
DISO_to_PHEN19img genetic aspects C0017399
DISO_to_ANAT13img Optic Disk C0029127
DISO_to_DISO11img Glaucoma C0017601
DISO_to_DISO11img Glaucoma, Open-Angle C0017612
DISO_to_DISO10img Vision Disorders C0042790
DISO_to_ANAT8img Cell, Retinal Ganglion C0035316
DISO_to_DISO8img Complication Aspects C1171258
DISO_to_DISO8img chemically induced C0007994
DISO_to_ANAT7img Nerve Fiber C0027749
DISO_to_ANAT7img Optic Nerve C0029130
DISO_to_CHEM7img GTP Phosphohydrolases C0018296
DISO_to_DISO7img Age related macular degeneration C0242383
DISO_to_DISO7img Blindness C0456909
DISO_to_ANAT6img Retina C0035298
DISO_to_DISO6img Glaucoma C0017601
DISO_to_DISO6img Glaucoma, Open-Angle C0017612
DISO_to_DISO6img Papilledema C0030353
DISO_to_DISO6img Wolfram Syndrome C0043207
DISO_to_PHYS6img Mutation C0026882
DISO_to_ANATis_associated_anatomic_site_ofimg Eye C0015392
DISO_to_DISOmapped_toimg 3-Methylglutaconic aciduria type 3 C0574084
DISO_to_DISOmapped_toimg Abortive cerebellar ataxia (disorder) C0221061
Genes (78)

Species:
human : 78
Page Size
Current 25
  Page 1 of 4
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanNDUFS7374291NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
img OMIM, Score=1000, UMLKSK CUI: C0029124
HumanMFSD8256471major facilitator superfamily domain containing 8
img OMIM, Score=1000, UMLKSK CUI: C0029124
HumanVPS13B157680vacuolar protein sorting 13 homolog B (yeast)
img OMIM, Score=1000, UMLKSK CUI: C0029124
HumanC8orf38137682
img OMIM, Score=1000, UMLKSK CUI: C0029124
HumanDNAJC19131118DnaJ (Hsp40) homolog, subfamily C, member 19
img OMIM, Score=1000, UMLKSK CUI: C0029124
HumanOPA380207optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
img GENERIF, Score=1000, Pubmed Id: 11668429, UMLKSK CUI: C0029124
img OMIM, Score=1000, UMLKSK CUI: C0029124
img OMIM, Score=1000, UMLKSK CUI: C0029124
HumanPANK280025pantothenate kinase 2
img OMIM, Score=1000, UMLKSK CUI: C0029124
HumanL2HGDH79944L-2-hydroxyglutarate dehydrogenase
img OMIM, Score=1000, UMLKSK CUI: C0029124
HumanFKRP79147fukutin related protein
img OMIM, Score=1000, UMLKSK CUI: C0029124
HumanPORCN64840porcupine homolog (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0029124
HumanMCOLN157192mucolipin 1
img OMIM, Score=1000, UMLKSK CUI: C0029124
HumanGJC257165gap junction protein, gamma 2, 47kDa
img OMIM, Score=1000, UMLKSK CUI: C0029124
HumanC10orf256652chromosome 10 open reading frame 2
img OMIM, Score=1000, UMLKSK CUI: C0029124
HumanPOMGNT155624protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
img OMIM, Score=1000, UMLKSK CUI: C0029124
HumanNDUFB1154539NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa
INFERRED, Score=800, UMLKSK CUI: C0029124
HumanRAB2351715RAB23, member RAS oncogene family
img OMIM, Score=1000, UMLKSK CUI: C0029124
HumanSOST50964sclerostin
img OMIM, Score=1000, UMLKSK CUI: C0029124
img OMIM, Score=1000, UMLKSK CUI: C0029124
HumanOSTM128962osteopetrosis associated transmembrane protein 1
img OMIM, Score=1000, UMLKSK CUI: C0029124
HumanNUP6223636nucleoporin 62kDa
img OMIM, Score=1000, UMLKSK CUI: C0029124
HumanRPIA22934ribose 5-phosphate isomerase A
img OMIM, Score=1000, UMLKSK CUI: C0029124
HumanRAB3GAP122930RAB3 GTPase activating protein subunit 1 (catalytic)
img OMIM, Score=1000, UMLKSK CUI: C0029124
HumanSLC19A210560solute carrier family 19 (thiamine transporter), member 2
img OMIM, Score=882, UMLKSK CUI: C0029124
HumanTCIRG110312T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
img OMIM, Score=1000, UMLKSK CUI: C0029124
HumanALG310195ALG3, alpha-1,3- mannosyltransferase
img OMIM, Score=1000, UMLKSK CUI: C0029124
HumanMFN29927mitofusin 2
img OMIM, Score=1000, UMLKSK CUI: C0029124
img OMIM, Score=1000, UMLKSK CUI: C0029124
img OMIM, Score=1000, UMLKSK CUI: C0029124
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0029124Optic Atrophy0self