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Details
Link-It Detail - Disease - Abnormal Karyotype
Debug Stats
  • ### Total Build Time: 77 ms 10.791 KB
  • CONCEPT_NAME gt=9 ms Completed: 9 ms rowSize= 388 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 229 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= 198 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=6 ms Completed: 6 ms rowSize= 558 bytes
  • CONCEPT_CHILDREN gt=7 ms Completed: 7 ms rowSize= 551 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=6 ms Completed: 6 ms rowSize= 1.532 KB
  • CONCEPT_RELATIONSHIPS gt=27 ms Completed: 27 ms rowSize= 3.454 KB
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 2.746 KB
  • CONCEPT_XREFS gt=8 ms Completed: 8 ms rowSize= 1.152 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
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Disease (2)
Abnormal Karyotype C0476431
Abn chromosomal analysis
Definition (1)
A variation from the normal set of chromosomes characteristic of a species.
Semantic Types (1)
Cell or Molecular Dysfunction (T049)
Parents (1)
img Chromosome Aberrations C0008625
Children (1)
img XYY Karyotype C0043379
Ancestral Roots
RootRoot Plus OneDepthParent
img Pathological Conditions, Signs and Symptoms C0039058img Pathologic Processes C00306604img Chromosome Aberrations C0008625
Relationships (6)

Relation Types:
diso_​to_​diso : 6


Relationships:
none : 2
classifies : 2
expanded_​form_​of : 1
mapped_​to : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO9img Leukemia, Myelocytic, Acute C0023467
DISO_to_DISO4img Chromosome Aberrations C0008625
DISO_to_DISOexpanded_form_ofimg Abn chromosomal analysis C0476431
DISO_to_DISOclassifiesimg All other congenital anomalies C0810365
DISO_to_DISOmapped_toimg Cell chromosome exam. abnormal C0428096
DISO_to_DISOclassifiesimg Other and unspecified congenital anomalies C0158795
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanOPRK14986opioid receptor, kappa 1
img GENERIF, Score=734, Pubmed Id: 18767415, UMLKSK CUI: C0476431
HumanCSPG41464chondroitin sulfate proteoglycan 4
img GENERIF, Score=734, Pubmed Id: 18767415, UMLKSK CUI: C0476431
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0476431Abnormal Karyotype0self