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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: AUTOSOMAL DOMINANT KCNQ1-RELATED DISEASE;   BWS;   EMG Syndrome;   EMG Syndromes;   Exomphalos-Macroglossia-Gigantism Syndrome;   WBS;   Wiedemann Beckwith syndromes (WBS);   Wiedemann-Beckwith syndrome (WBS)
 narrow_synonym: BECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION;   BWCR
 primary_id: MESH:D001506
 alt_id: OMIM:130650
 xref: GARD:3343;   MONDO:0007534;   NCI:C34415;   ORDO:116
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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
ISS		 ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome | ClinVar Annotator: match by term: EMG Syndrome
OMIM:130650
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8841187 PMID:9341892 PMID:9536098 PMID:10323243 PMID:10424811 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: EMG Syndrome ClinVar PMID:25741868 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 H19 H19 imprinted maternally expressed transcript ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:18836444 NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome		 CTD
ClinVar		 PMID:8252039 PMID:9349812 PMID:25741868 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:25741868 NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant KCNQ1-related disease | ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome | ClinVar Annotator: match by term: EMG Syndrome		 CTD
ClinVar		 PMID:1346223 PMID:1467812 PMID:1984130 PMID:2654361 PMID:8487283 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 term: Beckwith-Wiedemann syndrome | ClinVar Annotator: match by term: EMG Syndrome ClinVar PMID:12464997 PMID:12807965 PMID:14571271 PMID:15452385 PMID:15742365 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 chr14:103,841,713...104,016,900
Ensembl chr14:103,842,684...104,008,507 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    syndrome 10725
      Beckwith-Wiedemann syndrome 9
        Franceschini Vardeu Guala syndrome 0
Path 2
Term Annotations click to browse term
  disease 21118
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18310
        genetic disease 18254
          chromosomal disease 2688
            Beckwith-Wiedemann syndrome 9
              Franceschini Vardeu Guala syndrome 0
paths to the root