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ONTOLOGY REPORT - ANNOTATIONS


Term:Weaver syndrome
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Accession:DOID:14731 term browser browse the term
Definition:A syndrome that is characterized by prenatal and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay and has_material_basis_in heterozygous mutation in the EZH2 gene on chromosome 7q36. (DO)
Synonyms:exact_synonym: WSS;   WVS;   Weaver-Smith syndrome;   Weaver-Williams syndrome;   Weaver-like syndrome;   camptodactyly-overgrowth-unusual facies syndrome
 primary_id: MESH:C562443
 alt_id: MESH:C536687;   OMIM:277590
 xref: GARD:5545;   GARD:7878;   NCI:C125599;   ORDO:3447
For additional species annotation, visit the Alliance of Genome Resources.


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Weaver syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit JBrowse link 4 77,284,404 77,347,011 RGD:7240710
RGD:8554872
G Nsd1 nuclear receptor binding SET domain protein 1 JBrowse link 17 9,840,859 9,955,391 RGD:11554173
RGD:8554872
G Suz12 SUZ12 polycomb repressive complex 2 subunit JBrowse link 10 67,325,101 67,371,588 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    syndrome 6141
      Weaver syndrome 3
Path 2
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      musculoskeletal system disease 5532
        connective tissue disease 4002
          bone disease 3466
            bone development disease 1259
              Dwarfism 468
                congenital hypothyroidism 46
                  Weaver syndrome 3
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.