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ONTOLOGY REPORT - ANNOTATIONS


Term:Weaver syndrome
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Accession:DOID:14731 term browser browse the term
Synonyms:exact_synonym: WVS;   Weaver-Like Syndrome;   Weaver-Williams syndrome
 narrow_synonym: WEAVER-SMITH SYNDROME;   WSS WEAVER-LIKE SYNDROME
 primary_id: MESH:C536687;   MESH:C562443;   RDO:0002334
 alt_id: OMIM:277590;   RDO:0012168
 xref: GARD:5545;   GARD:7878
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 14759
    syndrome 4210
      Weaver syndrome 3
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        Congenital Abnormalities 3137
          Musculoskeletal Abnormalities 1185
            Congenital Limb Deformities 340
              Upper Extremity Deformities, Congenital 76
                Congenital Hand Deformities 62
                  Weaver syndrome 3
paths to the root