Logo arc image image
GATACA
  • Pin/Unpin Search
  • Pin/Unpin Details
Status:
Global Actions
Concepts: 0 (0)   Selected: 0 (0
Clear All Selections
 
Search
Text Search Results
Text Search Query:
none
Text Search Options:
none

Guided Help

Text Search Results
GraphTree Minimize or Maximize this Category
 Disease: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Anatomy: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Gene: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Jax Mouse Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Human Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Biological Processes: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Cellular Component: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Molecular Function: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Pathway: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Drug: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Genomic Expression Atlas --
      Microarray Datasets: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 PubMed: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 CoExpression Atlas: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 CoExpression: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Interactions: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Details
Link-It Detail - Disease - Optic Atrophy, Autosomal Dominant
Debug Stats
  • ### Total Build Time: 161 ms 27.062 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 364 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 256 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=14 ms Completed: 14 ms rowSize= 1,003 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=23 ms Completed: 23 ms rowSize= 7.973 KB
  • CONCEPT_RELATIONSHIPS gt=92 ms Completed: 92 ms rowSize= 13.478 KB
  • CONCEPT_GENES gt=11 ms Completed: 11 ms rowSize= 2.641 KB
  • CONCEPT_XREFS gt=12 ms Completed: 12 ms rowSize= 1.167 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Optic Atrophy, Autosomal Dominant C0338508
Definition (1)
An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss.
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 Eye Diseases C0015397img Eye Diseases, Hereditary C00153984img Optic Atrophies, Hereditary C0029125
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Optic Atrophies, Hereditary C0029125
img Eye Diseases C0015397img Optic Nerve Diseases C00291325img Optic Atrophies, Hereditary C0029125
img Nervous System Diseases C0027765img Cranial Nerve Diseases C00102666img Optic Atrophies, Hereditary C0029125
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248515img Optic Atrophies, Hereditary C0029125
Relationships (26)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 2
diso_​to_​diso : 19
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 6
is_​associated_​anatomic_​site_​of : 1
is_​finding_​of_​disease : 1
manifestation_​of : 17
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN61img genetic aspects C0017399
DISO_to_CHEM48img GTP Phosphohydrolases C0018296
DISO_to_PHEN38img genetic aspects C0017399
DISO_to_CHEM32img GTP Phosphohydrolases C0018296
DISO_to_PHYS19img Mutation C0026882
DISO_to_PHYS15img Mutation C0026882
DISO_to_ANATis_associated_anatomic_site_ofimg Eye C0015392
DISO_to_DISOmanifestation_ofimg Bimodal onset in early childhood (median 5 years) and young adulthood (21 to 30 years) C1833805
DISO_to_DISOmanifestation_ofimg Blue-yellow dyschromatopsia C1853142
DISO_to_DISOmanifestation_ofimg Caused by mutation in the OPA1 gene (OPA1, 605290.0001) C1833804
DISO_to_DISOmanifestation_ofimg Cecocentral scotoma C0271196
DISO_to_DISOmanifestation_ofimg Central Scotoma C0152191
DISO_to_DISOmanifestation_ofimg Decreased visual acuity C0234632
DISO_to_DISOis_finding_of_diseaseimg Hereditary Lesion C1708351
DISO_to_DISOmanifestation_ofimg Histology shows degeneration of retinal ganglion cells C2674708
DISO_to_DISOmanifestation_ofimg Horizontal nystagmus (5%) C1833803
DISO_to_DISOmanifestation_ofimg Incomplete penetrance C1836598
DISO_to_DISOmanifestation_ofimg Optic Atrophy C0029124
DISO_to_DISOpermuted_term_ofimg Optic Atrophy, Autosomal Dominant C0338508
DISO_to_DISOmanifestation_ofimg Pattern visual evoked potentials show reduced amplitude C1833801
DISO_to_DISOmanifestation_ofimg Phenotypic variability C1853719
DISO_to_DISOmanifestation_ofimg Prevalence ranges from 1 in 12,000 to 1 in 50,000 C2674709
DISO_to_DISOmanifestation_ofimg Red-green dyschromatopsia C1833800
DISO_to_DISOmanifestation_ofimg See also optic atrophy with deafness (125250), an allelic disorder C1833806
DISO_to_DISOmanifestation_ofimg Strabismus (10%) C1833802
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanOPA380207optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
img GENERIF, Score=1000, Pubmed Id: 15342707, UMLKSK CUI: C0338508
img OMIM, Score=1000, UMLKSK CUI: C0338508
HumanOPA14976optic atrophy 1 (autosomal dominant)
Click here to display 16 evidence detail records.
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0338508Optic Atrophy, Autosomal Dominant0self