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Term:Beckwith-Wiedemann syndrome
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Accession:DOID:5572 term browser browse the term
Definition:A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.
Synonyms:exact_synonym: BWS;   EMG Syndrome;   EMG Syndromes;   Exomphalos-Macroglossia-Gigantism Syndrome;   Wiedemann Beckwith syndromes (WBS);   Wiedemann-Beckwith syndrome (WBS)
 primary_id: MESH:D001506
 alt_id: OMIM:130650;   RDO:0003082
 xref: GARD:3343;   NCI:C34415;   ORDO:116
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Beckwith-Wiedemann syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdkn1c cyclin-dependent kinase inhibitor 1C JBrowse link 1 216,661,067 216,663,791 RGD:7240710
G Dnmt1 DNA methyltransferase 1 JBrowse link 8 21,922,515 21,968,495 RGD:8554872
G Igf2 insulin-like growth factor 2 JBrowse link 1 215,828,102 215,839,081 RGD:11554173
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 JBrowse link 1 216,293,087 216,630,339 RGD:11554173
G Mrpl23 mitochondrial ribosomal protein L23 JBrowse link 1 215,701,544 215,709,313 RGD:8554872
G Nsd1 nuclear receptor binding SET domain protein 1 JBrowse link 17 9,840,859 9,955,391 RGD:8554872
G Sptbn1 spectrin, beta, non-erythrocytic 1 JBrowse link 14 114,517,839 114,700,199 RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15489
    syndrome 5228
      Beckwith-Wiedemann syndrome 7
        Franceschini Vardeu Guala syndrome 0
Path 2
Term Annotations click to browse term
  disease 0
    Developmental Diseases 8822
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7612
        genetic disease 7095
          chromosomal disease 788
            Beckwith-Wiedemann syndrome 7
              Franceschini Vardeu Guala syndrome 0
paths to the root


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