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ONTOLOGY REPORT - ANNOTATIONS


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)
 narrow_synonym: BWCR;   WBS BECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION
 primary_id: MESH:D001506
 alt_id: OMIM:130650;   RDO:0003082
 xref: GARD:3343;   ORDO:116
For additional species annotation, visit the Alliance of Genome Resources.


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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
RGD:8554872
RGD:11554173
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
RGD:8554872
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

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  disease 14759
    syndrome 4210
      Beckwith-Wiedemann syndrome 7
        Franceschini Vardeu Guala syndrome 0
Path 2
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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          chromosomal disease 598
            Beckwith-Wiedemann syndrome 7
              Franceschini Vardeu Guala syndrome 0
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