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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
 alt_id: OMIM:606713


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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 term: Van der Woude syndrome 2 ClinVar PMID:21574244 PMID:25741868 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11781685 PMID:16199547 PMID:20184620 PMID:22590528 PMID:22829784 More... NCBI chr 5:147,774,161...147,806,291
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 21128
    syndrome 10833
      Van der Woude syndrome 6
        Van der Woude Syndrome 2 3
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        Congenital Abnormalities 7569
          Musculoskeletal Abnormalities 3288
            Craniofacial Abnormalities 2640
              Maxillofacial Abnormalities 309
                Jaw Abnormalities 263
                  orofacial cleft 155
                    cleft lip 59
                      Van der Woude syndrome 6
                        Van der Woude Syndrome 2 3
paths to the root