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Details
Link-It Detail - Disease - Dystonia Musculorum Deformans
Debug Stats
  • ### Total Build Time: 31 ms 29.042 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 356 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 650 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=0 Completed: 0 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=5 ms Completed: 5 ms rowSize= 1.423 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 5.458 KB
  • CONCEPT_RELATIONSHIPS gt=15 ms Completed: 15 ms rowSize= 13.748 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 6.049 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.163 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Dystonia Musculorum Deformans C0013423
Definition (1)
A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face. The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted. Onset is usually in the first or second decade. Familial patterns of inheritance, primarily autosomal dominant with incomplete penetrance, have been identified. (Adams et al., Principles of Neurology, 6th ed, p1078)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Basal Ganglia Diseases C0004782
img Dystonic Disorders C0393593
img Heredodegenerative Disorders, Nervous System C0751870
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076825img Basal Ganglia Diseases C0004782
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076825img Dystonic Disorders C0393593
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 (31)

Relation Types:
diso_​to_​anat : 4
diso_​to_​chem : 6
diso_​to_​diso : 18
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 11
classifies : 2
is_​associated_​anatomic_​site_​of : 1
is_​normal_​tissue_​origin_​of_​disease : 1
isa : 2
mapped_​to : 12
permuted_​term_​of : 1
used_​for : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN52img genetic aspects C0017399
DISO_to_PHEN39img genetic aspects C0017399
DISO_to_CHEM36img CHAPERONE MOL C0243041
DISO_to_CHEM22img Carrier Protein C0007292
DISO_to_CHEM19img CHAPERONE MOL C0243041
DISO_to_PHYS8img Mutation C0026882
DISO_to_ANAT7img Brain C0006104
DISO_to_ANAT6img Neurons C0027882
DISO_to_CHEM6img Apoptosis Regulator C1564881
DISO_to_CHEM6img Binding Protein, DNA C0012940
DISO_to_CHEM6img Nuclear Proteins C0028589
DISO_to_ANATis_associated_anatomic_site_ofimg Connective and Soft Tissue C1516798
DISO_to_ANATis_normal_tissue_origin_of_diseaseimg soft tissue C0225317
DISO_to_DISOisaimg Acquired torsion dystonia C1719382
DISO_to_DISOmapped_toimg Autosomal dominant idiopathic familial dystonia C0393599
DISO_to_DISOmapped_toimg Autosomal recessive idiopathic familial dystonia C0393600
DISO_to_DISOmapped_toimg DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT C1851945
DISO_to_DISOmapped_toimg DYSTONIA 15, MYOCLONIC C1843786
DISO_to_DISOmapped_toimg DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder) C1857093
DISO_to_DISOmapped_toimg DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder) C1851943
DISO_to_DISOmapped_toimg DYSTONIA 7, TORSION (disorder) C1865818
DISO_to_DISOmapped_toimg Diurnal Dystonia C0393610
DISO_to_DISOmapped_toimg Dystonia 6, torsion (disorder) C1414216
DISO_to_DISOused_forimg Dystonia Disorders C0393593
DISO_to_DISOpermuted_term_ofimg Dystonia Musculorum Deformans C0013423
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanTHAP155145THAP domain containing, apoptosis associated protein 1
img GENERIF, Score=694, Pubmed Id: 16366514, UMLKSK CUI: C0013423
img GENERIF, Score=923, Pubmed Id: 17702011, UMLKSK CUI: C0013423
HumanTAF16872TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
img OMIM, Score=1000, UMLKSK CUI: C0013423
HumanTOR1A1861torsin family 1, member A (torsin A)
img GENERIF, Score=1000, Pubmed Id: 12481989, UMLKSK CUI: C0013423
img GENERIF, Score=1000, Pubmed Id: 11757956, UMLKSK CUI: C0013423
img OMIM, Score=1000, UMLKSK CUI: C0013423
img GENERIF, Score=901, Pubmed Id: 17503336, UMLKSK CUI: C0013423
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0013423Dystonia Musculorum Deformans0self