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Details
Link-It Detail - Disease - CHAR SYNDROME
Debug Stats
  • ### Total Build Time: 48 ms 10.223 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 324 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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= 14 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=35 ms Completed: 35 ms rowSize= 7.099 KB
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 1.590 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.147 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
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Disease (1)
CHAR SYNDROME C1868570
Relationships (17)

Relation Types:
diso_​to_​diso : 17


Relationships:
alias_​of : 1
manifestation_​of : 16
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Blepharoptosis C0005745
DISO_to_DISOmanifestation_ofimg Broad forehead C1855408
DISO_to_DISOmanifestation_ofimg Broad nasal tip C0426429
DISO_to_DISOalias_ofimg CHAR SYNDROME C1868570
DISO_to_DISOmanifestation_ofimg Caused by mutations in the transcription factor AP-2 beta gene (TFAP2B, 601601.0001) C1868574
DISO_to_DISOmanifestation_ofimg Clinodactyly (fifth finger) C1857528
DISO_to_DISOmanifestation_ofimg Developmental delay, mild C1848735
DISO_to_DISOmanifestation_ofimg Ductus Arteriosus, Patent C0013274
DISO_to_DISOmanifestation_ofimg Fifth finger distal interphalangeal joint symphalangism C1868573
DISO_to_DISOmanifestation_ofimg Hypertelorism C0020534
DISO_to_DISOmanifestation_ofimg Low set ears ICD10CM:Q17.4 C3276227
DISO_to_DISOmanifestation_ofimg Prominent 'duckbill' lips C1868572
DISO_to_DISOmanifestation_ofimg Prominent ear C1305420
DISO_to_DISOmanifestation_ofimg Short philtrum C1861324
DISO_to_DISOmanifestation_ofimg Strabismus C0038379
DISO_to_DISOmanifestation_ofimg Thick, flared eyebrows C1868571
DISO_to_DISOmanifestation_ofimg Triangular mouth C1849341
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanTFAP2B7021transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
img GENERIF, Score=1000, Pubmed Id: 11505339, UMLKSK CUI: C1868570
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1868570CHAR SYNDROME0self