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Details
Link-It Detail - Disease - EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1
Debug Stats
  • ### Total Build Time: 17 ms 7.634 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 372 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=11 ms Completed: 11 ms rowSize= 4.439 KB
  • CONCEPT_GENES gt=2 ms Completed: 2 ms rowSize= 1.590 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.171 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1 C1832841
Relationships (9)

Relation Types:
diso_​to_​diso : 9


Relationships:
expanded_​form_​of : 1
manifestation_​of : 8
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Adult onset (mean age 37 years) C1832842
DISO_to_DISOmanifestation_ofimg Anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines) C1842867
DISO_to_DISOmanifestation_ofimg Childhood onset has been reported C1858490
DISO_to_DISOmanifestation_ofimg Clinically resembles essential tremor, but not responsive to beta-adrenergic blockers C1842866
DISO_to_DISOexpanded_form_ofimg EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1 C1832841
DISO_to_DISOmanifestation_ofimg Genetic heterogeneity (see BAFME2, 607876) C1832844
DISO_to_DISOmanifestation_ofimg Nonprogressive course C1842864
DISO_to_DISOmanifestation_ofimg Tremor is aggravated by emotional stress C1832843
DISO_to_DISOmanifestation_ofimg Tremor may be elicited by movement or postural maintenance C1842865
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanCSMD3114788CUB and Sushi multiple domains 3
img GENERIF, Score=1000, Pubmed Id: 12943675, UMLKSK CUI: C1832841
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1832841EPILEPSY, FAMILIAL ADULT MYOCLONIC, 10self