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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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:130650
OMIM
ClinVar
CTD
PMID:8841187, PMID:9311733, PMID:9341892, PMID:10323243, PMID:10424811, PMID:11414765, PMID:18395877, PMID:18414213, PMID:19386358, PMID:19843502, PMID:20503313, PMID:21910219, PMID:22140035, PMID:22634751, PMID:23197429, PMID:24033266, PMID:25427884, PMID:25741868, PMID:25861374, PMID:26061650, PMID:26077438, PMID:27436784, PMID:27854218, PMID:28492532, PMID:30311386, PMID:30374176 NCBI chr 1:216,661,067...216,663,791
Ensembl chr 1:216,661,080...216,663,721
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:28492532, PMID:30165906 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8252039, PMID:9349812 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
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, PMID:15051636, PMID:15840476, PMID:15935335, PMID:19716085, PMID:19841300, PMID:22378279, PMID:22581653, PMID:22629021, PMID:23174487, PMID:23392653, PMID:24033266, PMID:24055113, PMID:24190995, PMID:24357532, PMID:24606995, PMID:24912595, PMID:25608792, PMID:25637381, PMID:25705178, PMID:25741868, PMID:26077850, PMID:26669661, PMID:27159321, PMID:27650965, PMID:27884173, PMID:28438721, PMID:28449774, PMID:28492532, PMID:28944242, PMID:29197658 NCBI chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
JBrowse link
G Mrpl23 mitochondrial ribosomal protein L23 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:18836444 NCBI chr 1:215,701,544...215,709,313
Ensembl chr 1:215,701,544...215,709,313
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 Annotator: match by term: EMG Syndrome
ClinVar PMID:12464997, PMID:12807965, PMID:14517949, PMID:14571271, PMID:14627693, PMID:15452385, PMID:15742365, PMID:15942875, PMID:16222665, PMID:16232326, PMID:16247291, PMID:17565729, PMID:18001468, PMID:18414213, PMID:18505455, PMID:19545651, PMID:21196496, PMID:21597970, PMID:21972110, PMID:22924495, PMID:24088041, PMID:24412544, PMID:25326635, PMID:25326637, PMID:25533962, PMID:25608832, PMID:25741868, PMID:25741869, PMID:25852445, PMID:26633545, PMID:26690673, PMID:26896805, PMID:27604501, PMID:27834868, PMID:28475857, PMID:28492532, PMID:29264563, PMID:29276005, PMID:30311386 NCBI chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
JBrowse link
G Sptbn1 spectrin, beta, non-erythrocytic 1 ISS OMIM:130650 MouseDO NCBI chr14:114,517,839...114,700,199
Ensembl chr14:114,518,816...114,692,764
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Beckwith-Wiedemann syndrome 7
        Franceschini Vardeu Guala syndrome 0
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          chromosomal disease 1716
            Beckwith-Wiedemann syndrome 7
              Franceschini Vardeu Guala syndrome 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.