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Details
Link-It Detail - Disease - Nondisjunction, Genetic
Debug Stats
  • ### Total Build Time: 87 ms 18.121 KB
  • CONCEPT_NAME gt=15 ms Completed: 15 ms rowSize= 344 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 364 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= 251 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=8 ms Completed: 8 ms rowSize= 558 bytes
  • CONCEPT_CHILDREN gt=7 ms Completed: 7 ms rowSize= 556 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=5 ms Completed: 5 ms rowSize= 1.532 KB
  • CONCEPT_RELATIONSHIPS gt=24 ms Completed: 24 ms rowSize= 4.876 KB
  • CONCEPT_GENES gt=24 ms Completed: 24 ms rowSize= 8.504 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)
Nondisjunction, Genetic C0028303
Definition (1)
The failure of homologous CHROMOSOMES or CHROMATIDS to segregate during MITOSIS or MEIOSIS with the result that one daughter cell has both of a pair of parental chromosomes or chromatids and the other has none.
Semantic Types (2)
Genetic Function (T045)
Cell or Molecular Dysfunction (T049)
Parents (1)
img Chromosome Aberrations C0008625
Children (1)
img Uniparental Disomy C0949628
Ancestral Roots
RootRoot Plus OneDepthParent
img Pathological Conditions, Signs and Symptoms C0039058img Pathologic Processes C00306604img Chromosome Aberrations C0008625
Relationships (10)

Relation Types:
phys_​to_​anat : 4
phys_​to_​diso : 2
phys_​to_​phen : 1
phys_​to_​phys : 3


Relationships:
none : 9
entry_​version_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
PHYS_to_PHYS15img Meiosis C0025186
PHYS_to_PHYS9img Meioses C0025186
PHYS_to_ANAT7img 21 chromosome C0008664
PHYS_to_PHEN7img genetic aspects C0017399
PHYS_to_ANAT6img Oocytes C0029045
PHYS_to_DISO6img Down Syndrome C0013080
PHYS_to_ANAT5img Chromosomes C0008633
PHYS_to_ANAT5img Oocytes C0029045
PHYS_to_DISO5img Down Syndrome C0013080
PHYS_to_PHYSentry_version_ofimg Nondisjunction, Genetic C0028303
Genes (13)

Species:
human : 13
SpeciesGeneGeneIdGene NameEvidence
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
INFERRED, Score=800, UMLKSK CUI: C0028303
HumanFOXP293986forkhead box P2
INFERRED, Score=800, UMLKSK CUI: C0028303
HumanSPINK511005serine peptidase inhibitor, Kazal type 5
INFERRED, Score=800, UMLKSK CUI: C0028303
HumanUBE3A7337ubiquitin protein ligase E3A
INFERRED, Score=800, UMLKSK CUI: C0028303
HumanSRD5A26716steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
INFERRED, Score=800, UMLKSK CUI: C0028303
HumanPKLR5313pyruvate kinase, liver and RBC
INFERRED, Score=800, UMLKSK CUI: C0028303
HumanNTRK14914neurotrophic tyrosine kinase, receptor, type 1
INFERRED, Score=800, UMLKSK CUI: C0028303
HumanNF14763neurofibromin 1
INFERRED, Score=800, UMLKSK CUI: C0028303
HumanMECP24204methyl CpG binding protein 2 (Rett syndrome)
INFERRED, Score=800, UMLKSK CUI: C0028303
HumanCD464179CD46 molecule, complement regulatory protein
INFERRED, Score=800, UMLKSK CUI: C0028303
HumanHRAS3265Harvey rat sarcoma viral oncogene homolog
INFERRED, Score=800, UMLKSK CUI: C0028303
HumanCEBPA1050CCAAT/enhancer binding protein (C/EBP), alpha
INFERRED, Score=800, UMLKSK CUI: C0028303
HumanBUB1B701BUB1 mitotic checkpoint serine/threonine kinase B
img OMIM, Score=1000, UMLKSK CUI: C0028303
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0028303Nondisjunction, Genetic0self