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Details
Link-It Detail - Disease - Dystonia
Debug Stats
  • ### Total Build Time: 96 ms 48.857 KB
  • CONCEPT_NAME gt=10 ms Completed: 10 ms rowSize= 314 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 541 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= 184 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=5 ms Completed: 5 ms rowSize= 547 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 549 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.071 KB
  • CONCEPT_RELATIONSHIPS gt=52 ms Completed: 52 ms rowSize= 12.831 KB
  • CONCEPT_GENES gt=20 ms Completed: 20 ms rowSize= 28.700 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.143 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Dystonia C0013421
Definition (1)
An attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (Adams et al., Principles of Neurology, 6th ed, p77)
Semantic Types (1)
Sign or Symptom (T184)
Parents (1)
img Dyskinesias C0013384
Children (1)
img Torticollis C0040485
Ancestral Roots
RootRoot Plus OneDepthParent
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370885img Dyskinesias C0013384
img Nervous System Diseases C0027765img Neurologic Manifestations C00278544img Dyskinesias C0013384
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076825img Dyskinesias C0013384
Relationships (75)

Relation Types:
diso_​to_​anat : 9
diso_​to_​chem : 33
diso_​to_​diso : 28
diso_​to_​phen : 2
diso_​to_​phys : 3


Relationships:
none : 63
mapped_​to : 7
may_​treat : 4
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN187img genetic aspects C0017399
DISO_to_PHEN151img genetic aspects C0017399
DISO_to_DISO106img Complication Aspects C1171258
DISO_to_DISO106img chemically induced C0007994
DISO_to_DISO87img chemically induced C0007994
DISO_to_DISO61img Complication Aspects C1171258
DISO_to_DISO54img Parkinson Disease C0030567
DISO_to_ANAT51img Globus Pallidus C0017651
DISO_to_CHEM47img ANTIPSYCHOTICS C0040615
DISO_to_DISO41img Parkinson Disease C0030567
DISO_to_PHYS36img Mutation C0026882
DISO_to_CHEM34img CHAPERONE MOL C0243041
DISO_to_CHEM34img Molecular Chaperones C0243041
DISO_to_CHEM33img CHAPERONE MOL C0243041
DISO_to_CHEM31img ANTIPSYCHOTICS C0040615
DISO_to_DISO31img Myoclonus C0027066
DISO_to_DISO29img Parkinsonian Disorders C0242422
DISO_to_ANAT27img Brain C0006104
DISO_to_PHYS27img Mutation C0026882
DISO_to_CHEM25img (-)-3-(3,4-Dihydroxyphenyl)-L-alanine C0023570
DISO_to_CHEM25img Botulinum Toxin Type A C0006050
DISO_to_CHEM25img Levodopa C0023570
DISO_to_DISO24img Dystonia Disorders C0393593
DISO_to_CHEM23img Piperazines C0031958
DISO_to_DISO23img Parkinsonian Disorders C0242422
Genes (72)

Species:
human : 72
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanGDF6392255growth differentiation factor 6
INFERRED, Score=800, UMLKSK CUI: C0013421
HumanNDUFS7374291NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
img OMIM, Score=1000, UMLKSK CUI: C0013421
HumanARX170302aristaless related homeobox
img GENERIF, Score=1000, Pubmed Id: 15726411, UMLKSK CUI: C0013421
img OMIM, Score=1000, UMLKSK CUI: C0013421
img OMIM, Score=790, UMLKSK CUI: C0013421
HumanC8orf38137682
img OMIM, Score=1000, UMLKSK CUI: C0013421
HumanPANK280025pantothenate kinase 2
img OMIM, Score=1000, UMLKSK CUI: C0013421
HumanFA2H79152fatty acid 2-hydroxylase
img GENERIF, Score=1000, Pubmed Id: 19068277, UMLKSK CUI: C0013421
HumanPINK165018PTEN induced putative kinase 1
img OMIM, Score=1000, UMLKSK CUI: C0013421
HumanJPH357338junctophilin 3
img OMIM, Score=1000, UMLKSK CUI: C0013421
HumanMCOLN157192mucolipin 1
img OMIM, Score=1000, UMLKSK CUI: C0013421
HumanAPTX54840aprataxin
img OMIM, Score=1000, UMLKSK CUI: C0013421
HumanMMADHC27249methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
img OMIM, Score=1000, UMLKSK CUI: C0013421
HumanCHMP2B25978charged multivesicular body protein 2B
img OMIM, Score=1000, UMLKSK CUI: C0013421
HumanPNKD25953paroxysmal nonkinesigenic dyskinesia
img OMIM, Score=1000, UMLKSK CUI: C0013421
HumanNUP6223636nucleoporin 62kDa
img OMIM, Score=1000, UMLKSK CUI: C0013421
HumanVPS13A23230vacuolar protein sorting 13 homolog A (S. cerevisiae)
img OMIM, Score=1000, UMLKSK CUI: C0013421
HumanTREX111277three prime repair exonuclease 1
img OMIM, Score=1000, UMLKSK CUI: C0013421
HumanNPC210577Niemann-Pick disease, type C2
img OMIM, Score=1000, UMLKSK CUI: C0013421
HumanSGCE8910sarcoglycan, epsilon
img GENERIF, Score=1000, Pubmed Id: 16534121, UMLKSK CUI: C0013421
img GAD, Score=1000, Pubmed Id: 15728306, UMLKSK CUI: C0013421
img GENERIF, Score=1000, Pubmed Id: 18175340, UMLKSK CUI: C0013421
img OMIM, Score=1000, UMLKSK CUI: C0013421
img GAD, Score=1000, Pubmed Id: 15679701, UMLKSK CUI: C0013421
HumanPLA2G68398phospholipase A2, group VI (cytosolic, calcium-independent)
img OMIM, Score=1000, UMLKSK CUI: C0013421
HumanPDHX8050pyruvate dehydrogenase complex, component X
img OMIM, Score=1000, UMLKSK CUI: C0013421
HumanCNBP7555CCHC-type zinc finger, nucleic acid binding protein
img OMIM, Score=790, UMLKSK CUI: C0013421
HumanVCP7415valosin containing protein
img OMIM, Score=1000, UMLKSK CUI: C0013421
HumanTH7054tyrosine hydroxylase
img GENERIF, Score=861, Pubmed Id: 12891655, UMLKSK CUI: C0013421
HumanTBP6908TATA box binding protein
img OMIM, Score=1000, UMLKSK CUI: C0013421
img GAD, Score=1000, Pubmed Id: 15503103, UMLKSK CUI: C0013421
HumanTAF16872TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
img OMIM, Score=666, UMLKSK CUI: C0013421
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0013421Dystonia0self