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Details
Link-It Detail - Disease - DiGeorge Syndrome
Debug Stats
  • ### Total Build Time: 302 ms 20.719 KB
  • CONCEPT_NAME gt=9 ms Completed: 9 ms rowSize= 332 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 407 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= 188 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=278 ms Completed: 278 ms rowSize= 14.165 KB
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 4.440 KB
  • CONCEPT_XREFS gt=6 ms Completed: 6 ms rowSize= 1.151 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
DiGeorge Syndrome C0012236
Definition (1)
Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.
Semantic Types (1)
Disease or Syndrome (T047)
Relationships (111)

Relation Types:
diso_​to_​anat : 10
diso_​to_​chem : 5
diso_​to_​diso : 87
diso_​to_​gene : 4
diso_​to_​phen : 2
diso_​to_​phys : 3


Relationships:
none : 33
classifies : 1
gene_​associated_​with_​disease : 3
gene_​product_​malfunction_​associated_​with_​disease : 2
manifestation_​of : 69
permuted_​term_​of : 1
related_​to : 2
Page Size
Current 25
  Page 1 of 5
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN178img genetic aspects C0017399
DISO_to_PHEN128img genetic aspects C0017399
DISO_to_DISO96img Complication Aspects C1171258
DISO_to_ANAT88img 22 chromosome C0008665
DISO_to_DISO72img Chromosome Deletion C0008628
DISO_to_ANAT68img 22 chromosome C0008665
DISO_to_DISO46img Complication Aspects C1171258
DISO_to_DISO38img Chromosome Deletion C0008628
DISO_to_PHYS17img Gene Deletion C0017260
DISO_to_DISO16img Abnormalities, Multiple C0000772
DISO_to_DISO15img Cognition Disorders C0009241
DISO_to_DISO15img Psychotic Disorders C0033975
DISO_to_ANAT14img Thymus Gland C0040113
DISO_to_DISO14img Congenital Heart Defects C0018798
DISO_to_DISO13img Hypocalcemia C0020598
DISO_to_DISO13img Velopharyngeal Insufficiency C0042454
DISO_to_ANAT12img Brain C0006104
DISO_to_CHEM12img Proteins, T-Box Domain C0752212
DISO_to_DISO12img Schizophrenia C0036341
DISO_to_DISO11img Abnormalities, Multiple C0000772
DISO_to_DISO11img Congenital Heart Defects C0018798
DISO_to_DISO11img Intellectual Disability C0025362
DISO_to_ANAT10img In Blood C0005768
DISO_to_ANAT9img Cerebral Cortex C0007776
DISO_to_ANAT9img Thymus Gland C0040113
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanDGCR854487DGCR8 microprocessor complex subunit
img GENERIF, Score=812, Pubmed Id: 17159994, UMLKSK CUI: C0012236
HumanTBX16899T-box 1
img OMIM, Score=1000, UMLKSK CUI: C0012236
img GENERIF, Score=734, Pubmed Id: 12858556, UMLKSK CUI: C0012236
img GENERIF, Score=734, Pubmed Id: 15703190, UMLKSK CUI: C0012236
img OMIM, Score=760, UMLKSK CUI: C0012236
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0012236DiGeorge Syndrome0self