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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Beckwith-Wiedemann syndrome
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Accession:DOID:5572 term browser browse the term
Definition:A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations. (DO)
Synonyms:exact_synonym: BWS;   EMG Syndrome;   EMG Syndromes;   Exomphalos-Macroglossia-Gigantism Syndrome;   Wiedemann Beckwith syndromes (WBS);   Wiedemann-Beckwith syndrome (WBS)
 narrow_synonym: BWCR;   WBS BECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION
 primary_id: MESH:D001506
 alt_id: OMIM:130650
 xref: GARD:3343;   NCI:C34415;   ORDO:116
For additional species annotation, visit the Alliance of Genome Resources.



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Beckwith-Wiedemann syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1c cyclin-dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome
ClinVar Annotator: match by term: EMG Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:130650
OMIM
ClinVar
CTD
PMID:8841187 PMID:9311733 PMID:9341892 PMID:9536098 PMID:10323243 More... NCBI chr 1:198,655,394...198,658,097
Ensembl chr 1:198,655,407...198,658,048
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:25741868 PMID:28166811 PMID:28492532 PMID:30165906 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8252039 PMID:9349812 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EMG Syndrome
ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome
CTD
ClinVar
PMID:10704188 PMID:11530100 PMID:12566525 PMID:14510661 PMID:14678125 More... NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
JBrowse link
G Mrpl23 mitochondrial ribosomal protein L23 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:18836444 NCBI chr 1:197,687,452...197,695,222
Ensembl chr 1:197,687,347...197,695,222
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by OMIM:130650
ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome
ClinVar PMID:9536098 PMID:12464997 PMID:12807965 PMID:14517949 PMID:14571271 More... NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
JBrowse link
G Sptbn1 spectrin, beta, non-erythrocytic 1 ISS OMIM:130650 MouseDO NCBI chr14:103,842,684...104,008,507
Ensembl chr14:103,842,684...104,008,507
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Beckwith-Wiedemann syndrome 7
        Franceschini Vardeu Guala syndrome 0
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          chromosomal disease 1913
            Beckwith-Wiedemann syndrome 7
              Franceschini Vardeu Guala syndrome 0
paths to the root