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Details
Link-It Detail - Disease - Chromosome Inversion
Debug Stats
  • ### Total Build Time: 145 ms 18.990 KB
  • CONCEPT_NAME gt=12 ms Completed: 12 ms rowSize= 338 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 250 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=2 ms Completed: 2 ms rowSize= 198 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=5 ms Completed: 5 ms rowSize= 558 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=5 ms Completed: 5 ms rowSize= 1.532 KB
  • CONCEPT_RELATIONSHIPS gt=100 ms Completed: 100 ms rowSize= 12.692 KB
  • CONCEPT_GENES gt=9 ms Completed: 9 ms rowSize= 2.264 KB
  • CONCEPT_XREFS gt=11 ms Completed: 11 ms rowSize= 1.154 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Chromosome Inversion C0021943
Definition (1)
A chromosome segment is clipped out, turned upside down and reinserted back into the chromosome.
Semantic Types (1)
Cell or Molecular Dysfunction (T049)
Parents (1)
img Chromosome Aberrations C0008625
Ancestral Roots
RootRoot Plus OneDepthParent
img Pathological Conditions, Signs and Symptoms C0039058img Pathologic Processes C00306604img Chromosome Aberrations C0008625
Relationships (56)

Relation Types:
diso_​to_​anat : 13
diso_​to_​chem : 5
diso_​to_​diso : 28
diso_​to_​phen : 4
diso_​to_​phys : 6


Relationships:
none : 44
isa : 11
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN117img genetic aspects C0017399
DISO_to_PHEN57img genetic aspects C0017399
DISO_to_ANAT41img Chromosomes, Human, Pair 16 C0008658
DISO_to_DISO32img Chromosome Deletion C0008628
DISO_to_DISO32img Leukemia, Myeloid, Acute C0023467
DISO_to_DISO30img Chromosomal translocation C0040715
DISO_to_PHYS27img Polymorphism, Genetic C0032529
DISO_to_DISO25img Chromosomal translocation C0040715
DISO_to_PHEN24img EVOLUTION MOL C0282688
DISO_to_ANAT23img 16 chromosome C0008658
DISO_to_DISO23img Hemophilia A C0019069
DISO_to_DISO21img Abnormalities, Multiple C0000772
DISO_to_DISO21img Leukemia, Myeloid C0023470
DISO_to_DISO20img Hemophilia A C0019069
DISO_to_DISO20img Leukemia, Myelocytic, Acute C0023467
DISO_to_CHEM19img Factor VIII C0015506
DISO_to_DISO18img Leukemia, Myelomonocytic, Acute C0023479
DISO_to_PHYS18img Genetic Polymorphism C0032529
DISO_to_ANAT17img Chromosomes, Human, Pair 9 C0008672
DISO_to_CHEM17img Factor VIII C0015506
DISO_to_PHYS17img Gene Duplication C0017261
DISO_to_ANAT15img Chromosomes, Human, Pair 3 C0008666
DISO_to_PHYS15img Recombination, Genetic C0034865
DISO_to_ANAT14img 9 chromosome C0008672
DISO_to_ANAT14img Chromosomes C0008633
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanEP3002033E1A binding protein p300
img OMIM, Score=966, UMLKSK CUI: C0021943
HumanCREBBP1387CREB binding protein
img OMIM, Score=966, UMLKSK CUI: C0021943
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0021943Chromosome Inversion0self