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Details
Link-It Detail - Disease - SENIOR-LOKEN SYNDROME 6
Debug Stats
  • ### Total Build Time: 11 ms 6.622 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 344 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=1 ms Completed: 1 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=5 ms Completed: 5 ms rowSize= 3.649 KB
  • CONCEPT_GENES gt=1 ms Completed: 1 ms rowSize= 1.409 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.157 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
SENIOR-LOKEN SYNDROME 6 C1857779
Relationships (7)

Relation Types:
diso_​to_​diso : 7


Relationships:
expanded_​form_​of : 1
manifestation_​of : 6
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Allelic to Joubert syndrome 5 (610188) and Leber congenital amaurosis type X (610142) C2674871
DISO_to_DISOmanifestation_ofimg Caused by mutation in the 290-kD centrosomal protein gene (CEP290, 610142.0004) C1969139
DISO_to_DISOmanifestation_ofimg Decreased visual acuity C0234632
DISO_to_DISOmanifestation_ofimg End stage renal disease ICD10CM:N18.9 C3277287
DISO_to_DISOmanifestation_ofimg No cerebellar vermis aplasia/hypoplasia C1969138
DISO_to_DISOmanifestation_ofimg Retinitis Pigmentosa C0035334
DISO_to_DISOexpanded_form_ofimg SENIOR-LOKEN SYNDROME 6 C1857779
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanCEP29080184centrosomal protein 290kDa
img OMIM, Score=1000, UMLKSK CUI: C1857779
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1857779SENIOR-LOKEN SYNDROME 60self