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Details
Link-It Detail - Disease - Beckwith-Wiedemann Syndrome
Debug Stats
  • ### Total Build Time: 70 ms 39.596 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 352 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 503 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 4.196 KB
  • CONCEPT_RELATIONSHIPS gt=46 ms Completed: 46 ms rowSize= 14.732 KB
  • CONCEPT_GENES gt=8 ms Completed: 8 ms rowSize= 17.421 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.161 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Beckwith-Wiedemann Syndrome C0004903
Definition (1)
A genetic syndrome caused by abnormalities in chromosome 11. It is characterized by large birth weight, macroglossia, umbilical hernia, ear abnormalities, and hypoglycemia. Patients with this syndrome have an increased risk of developing embryonal tumors (gonadoblastoma, hepatoblastoma, Wilms tumor, Rhabdomyosarcoma) and adrenal cortex carcinomas.
Semantic Types (2)
Congenital Abnormality (T019)
Disease or Syndrome (T047)
Parents (2)
img Chromosome Disorders C0008626
img Abnormalities, Multiple C0000772
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Chromosome Disorders C0008626
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Chromosome Disorders C0008626
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Abnormalities, Multiple C0000772
Relationships (67)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 5
diso_​to_​diso : 49
diso_​to_​gene : 4
diso_​to_​phen : 2
diso_​to_​phys : 5


Relationships:
none : 19
gene_​associated_​with_​disease : 3
gene_​product_​malfunction_​associated_​with_​disease : 1
is_​finding_​of_​disease : 1
manifestation_​of : 34
mapped_​to : 1
may_​be_​associated_​disease_​of_​disease : 5
may_​be_​molecular_​abnormality_​of_​disease : 1
permuted_​term_​of : 1
related_​to : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN85img genetic aspects C0017399
DISO_to_PHEN68img genetic aspects C0017399
DISO_to_DISO40img Complication Aspects C1171258
DISO_to_DISO36img Complication Aspects C1171258
DISO_to_PHYS33img Genomic Imprinting C0242614
DISO_to_PHYS20img Genomic Imprinting C0242614
DISO_to_ANAT16img Chromosome 11 C0008653
DISO_to_ANAT15img Chromosome 11 C0008653
DISO_to_PHYS14img DNA Methylation C0376452
DISO_to_DISO11img Macroglossia C0024421
DISO_to_CHEM10img Membrane Associated Proteins C0025252
DISO_to_DISO10img Russell-Silver syndrome C0175693
DISO_to_DISO10img Silver-Russell Syndrome C0175693
DISO_to_DISO9img Nephroblastoma C0027708
DISO_to_CHEM7img Cyclin-Dependent Kinase Inhibitor p57 C0296845
DISO_to_CHEM7img Potassium Channels, Voltage-Gated C0814023
DISO_to_CHEM7img RNA, Untranslated C0887909
DISO_to_DISO7img Disomies, Uniparental C0949628
DISO_to_PHYS7img DNA Methylation C0376452
DISO_to_CHEMgene_product_malfunction_associated_with_diseaseimg Histone-Lysine N-Methyltransferase, H3 Lysine-36 and H4 Lysine-20 Specific C2697610
DISO_to_DISOmanifestation_ofimg Adrenal carcinoma C1370740
DISO_to_DISOmay_be_associated_disease_of_diseaseimg Adrenocortical Carcinoma C0206686
DISO_to_DISOmanifestation_ofimg Adrenocortical cytomegaly C1851720
DISO_to_DISOmanifestation_ofimg Average birth length, 52.6cm C1851728
DISO_to_DISOmanifestation_ofimg Average birth weight 4kg C1851730
Genes (10)

Species:
human : 10
SpeciesGeneGeneIdGene NameEvidence
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
img GENERIF, Score=1000, Pubmed Id: 11813134, UMLKSK CUI: C0004903
img GENERIF, Score=1000, Pubmed Id: 18627058, UMLKSK CUI: C0004903
img GENERIF, Score=1000, Pubmed Id: 12439823, UMLKSK CUI: C0004903
HumanNSD164324nuclear receptor binding SET domain protein 1
img GENERIF, Score=1000, Pubmed Id: 14997421, UMLKSK CUI: C0004903
HumanKCNQ1OT110984KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
img GENERIF, Score=1000, Pubmed Id: 18249379, UMLKSK CUI: C0004903
img GENERIF, Score=1000, Pubmed Id: 11813134, UMLKSK CUI: C0004903
img GENERIF, Score=913, Pubmed Id: 12136243, UMLKSK CUI: C0004903
img GENERIF, Score=1000, Pubmed Id: 12772698, UMLKSK CUI: C0004903
img GENERIF, Score=1000, Pubmed Id: 12439823, UMLKSK CUI: C0004903
img GENERIF, Score=1000, Pubmed Id: 15888726, UMLKSK CUI: C0004903
HumanWT17490Wilms tumor 1
img OMIM, Score=909, UMLKSK CUI: C0004903
HumanPLAGL15325pleiomorphic adenoma gene-like 1
img GENERIF, Score=1000, Pubmed Id: 15888726, UMLKSK CUI: C0004903
HumanIGF23481insulin-like growth factor 2 (somatomedin A)
img GAD, Score=1000, Pubmed Id: 14645199, UMLKSK CUI: C0004903
HumanGPC32719glypican 3
img OMIM, Score=909, UMLKSK CUI: C0004903
HumanCDKN1C1028cyclin-dependent kinase inhibitor 1C (p57, Kip2)
img GENERIF, Score=923, Pubmed Id: 15900410, UMLKSK CUI: C0004903
img GENERIF, Score=1000, Pubmed Id: 15888726, UMLKSK CUI: C0004903
img GENERIF, Score=756, Pubmed Id: 16061564, UMLKSK CUI: C0004903
HumanBRCA2675breast cancer 2, early onset
img OMIM, Score=909, UMLKSK CUI: C0004903
HumanAFP174alpha-fetoprotein
img GENERIF, Score=1000, Pubmed Id: 17535089, UMLKSK CUI: C0004903
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0004903Beckwith-Wiedemann Syndrome0self