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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:Van der Woude Syndrome 2
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Accession:DOID:9008934 term browser browse the term
Synonyms:exact_synonym: VWS2
 primary_id: MESH:C536529;   RDO:0002140
 alt_id: OMIM:606713
For additional species annotation, visit the Alliance of Genome Resources.



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Van der Woude Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap57 cilia and flagella associated protein 57 ISO ClinVar Annotator: match by null ClinVar PMID:21574244 NCBI chr 5:132,074,404...132,148,102
Ensembl chr 5:132,074,395...132,148,462
JBrowse link
G Grhl3 grainyhead-like transcription factor 3 ISO ClinVar Annotator: match by term: Van der Woude syndrome 2
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:11781685 PMID:16199547 PMID:20184620 PMID:22590528 PMID:22829784 More... NCBI chr 5:147,774,160...147,806,338
Ensembl chr 5:147,774,160...147,806,160
JBrowse link
G Stpg1 sperm-tail PG-rich repeat containing 1 ISO ClinVar Annotator: match by term: Van der Woude syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:147,717,084...147,769,792
Ensembl chr 5:147,726,646...147,769,788
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    syndrome 8267
      Van der Woude syndrome 6
        Van der Woude Syndrome 2 3
Path 2
Term Annotations click to browse term
  disease 17445
    Developmental Disease 11029
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9553
        Congenital Abnormalities 5651
          Musculoskeletal Abnormalities 2255
            Craniofacial Abnormalities 1968
              Maxillofacial Abnormalities 240
                Jaw Abnormalities 228
                  orofacial cleft 130
                    cleft lip 55
                      Van der Woude syndrome 6
                        Van der Woude Syndrome 2 3
paths to the root