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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:26076356 PMID:26077438 PMID:27436784 PMID:28492532 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: Beckwith-Wiedemann syndrome
ClinVar Annotator: match by term: EMG 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:25649125 PMID:25705178 PMID:25741868 PMID:25854863 PMID:26077850 PMID:26318259 PMID:26669661 PMID:27159321 PMID:27650965 PMID:27884173 PMID:28438721 PMID:28449774 PMID:28492532 PMID:28944242 PMID:29197658 PMID:31696929 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 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 16123
    syndrome 7053
      Beckwith-Wiedemann syndrome 7
        Franceschini Vardeu Guala syndrome 0
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          chromosomal disease 1738
            Beckwith-Wiedemann syndrome 7
              Franceschini Vardeu Guala syndrome 0
paths to the root