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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: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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by OMIM:277590
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Weaver syndrome
OMIM
ClinVar
PMID:4366187 PMID:9536098 PMID:17576681 PMID:18414213 PMID:22177091 PMID:22190405 PMID:23239504 PMID:23680131 PMID:24214728 PMID:24728327 PMID:25741868 PMID:26380986 PMID:26694085 PMID:28166811 PMID:28492532 NCBI chr 4:77,284,404...77,347,011
Ensembl chr 4:77,284,404...77,347,011
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Weaver syndrome
CTD
ClinVar
PMID:12807965 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:25741868 PMID:30019515 NCBI chr10:67,325,101...67,371,588
Ensembl chr10:67,325,347...67,369,668
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      Weaver syndrome 3
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      Skin and Connective Tissue Diseases 4984
        connective tissue disease 3651
          bone disease 2997
            bone development disease 1326
              Dwarfism 488
                congenital hypothyroidism 46
                  Weaver syndrome 3
paths to the root