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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.


show annotations for term's descendants           Sort by:
Weaver syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntnap2 contactin associated protein 2 ISO ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:28492532 NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027 		JBrowse link
G Cul1 cullin 1 ISO ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:28492532 NCBI chr 4:76,551,952...76,625,830
Ensembl chr 4:76,551,983...76,627,980 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:277590
ClinVar Annotator: match by term: Weaver syndrome		 OMIM
CTD
MouseDO
ClinVar		 PMID:4366187 PMID:9536098 PMID:17576681 PMID:18414213 PMID:22177091 More... NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362 		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 chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358 		JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:25741868 PMID:30019515 NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    physical disorder 4964
      congenital hypothyroidism 234
        Weaver syndrome 5
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      Skin and Connective Tissue Diseases 7520
        connective tissue disease 5786
          bone disease 4302
            bone development disease 2307
              Dwarfism 865
                congenital hypothyroidism 234
                  Weaver syndrome 5
paths to the root