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Details
Link-It Detail - Disease - Aneuploidy
Debug Stats
  • ### Total Build Time: 189 ms 24.391 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 379 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 601 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= 198 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=9 ms Completed: 9 ms rowSize= 558 bytes
  • CONCEPT_CHILDREN gt=6 ms Completed: 6 ms rowSize= 971 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=6 ms Completed: 6 ms rowSize= 1.532 KB
  • CONCEPT_RELATIONSHIPS gt=152 ms Completed: 152 ms rowSize= 14.320 KB
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 4.723 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.145 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Disease (2)
Aneuploidy C0002938
Alteration of chromosome number
Definition (1)
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
Semantic Types (1)
Cell or Molecular Dysfunction (T049)
Parents (1)
img Chromosome Aberrations C0008625
Children (2)
img Monosomy C0026499
img Trisomy C0041107
Ancestral Roots
RootRoot Plus OneDepthParent
img Pathological Conditions, Signs and Symptoms C0039058img Pathologic Processes C00306604img Chromosome Aberrations C0008625
Relationships (223)

Relation Types:
diso_​to_​anat : 27
diso_​to_​chem : 9
diso_​to_​diso : 174
diso_​to_​gene : 1
diso_​to_​phys : 12


Relationships:
none : 80
disease_​has_​cytogenetic_​abnormality : 88
disease_​may_​have_​cytogenetic_​abnormality : 5
disease_​may_​have_​molecular_​abnormality : 35
isa : 6
mapped_​to : 7
permuted_​term_​of : 1
use : 1
Page Size
Current 25
  Page 1 of 9
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO67img Neoplasms C0027651
DISO_to_ANAT62img Spermatozoa C0037868
DISO_to_ANAT54img Spermatozoa C0037868
DISO_to_DISO48img Chromosome Disorders C0008626
DISO_to_ANAT47img Oocytes C0029045
DISO_to_DISO47img Neoplasms C0027651
DISO_to_DISO40img Chromosome Aberrations C0008625
DISO_to_DISO39img Chromosome Aberrations C0008625
DISO_to_DISO38img Abnormalities, Multiple C0000772
DISO_to_PHYS38img Mosaicism C0026578
DISO_to_DISO37img Down Syndrome C0013080
DISO_to_ANAT36img Oocytes C0029045
DISO_to_ANAT31img Chromosome, Human C0008643
DISO_to_PHYS31img Meioses C0025186
DISO_to_ANAT27img Chromosome, Human X C1136735
DISO_to_PHYS27img Mosaicism C0026578
DISO_to_ANAT25img Blastocyst C1281743
DISO_to_CHEM25img DNA, Neoplasm C0012930
DISO_to_DISO25img CELL TRANSFORM NEOPL C0007621
DISO_to_DISO25img Infertility, Male C0021364
DISO_to_CHEM24img DNA C0012854
DISO_to_CHEM23img Cell Cycle Protein C0243021
DISO_to_DISO23img Chromosomal Instability C1257806
DISO_to_PHYS23img Mutation C0026882
DISO_to_CHEM22img Protein p53 C0080055
Genes (5)

Species:
human : 5
SpeciesGeneGeneIdGene NameEvidence
HumanADAM128038ADAM metallopeptidase domain 12
INFERRED, Score=800, UMLKSK CUI: C0002938
HumanTBX16899T-box 1
INFERRED, Score=800, UMLKSK CUI: C0002938
HumanCREBBP1387CREB binding protein
INFERRED, Score=800, UMLKSK CUI: C0002938
HumanBUB1B701BUB1 mitotic checkpoint serine/threonine kinase B
img OMIM, Score=790, UMLKSK CUI: C0002938
img OMIM, Score=790, UMLKSK CUI: C0002938
img OMIM, Score=1000, UMLKSK CUI: C0002938
HumanAPP351amyloid beta (A4) precursor protein
INFERRED, Score=800, UMLKSK CUI: C0002938
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0002938Aneuploidy0self