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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
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Accession:DOID:0060239 term browser browse the term
Definition:A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone. (DO)
Synonyms:exact_synonym: Cleft lip and-or palate with mucous cysts of lower lip;   LPS;   Lip pit syndrome;   PIT;   VAN DER WOUDE SYNDROME 1;   VDWS;   VWS1
 primary_id: MESH:C536528;   RDO:0002139
 alt_id: OMIM:119300
 xref: GARD:8414;   ICD10CM:Q38.0;   NCI:C74986;   ORDO:888
For additional species annotation, visit the Alliance of Genome Resources.


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Van der Woude syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grhl3 grainyhead-like transcription factor 3 ISS
ISO		 OMIM:119300 | OMIM:606713
ClinVar Annotator: match by term: Van der Woude syndrome		 MouseDO
ClinVar		 PMID:25741868 NCBI chr 5:147,774,160...147,806,338
Ensembl chr 5:147,774,160...147,806,160 		JBrowse link
G Irf6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: van der Woude syndrome 1
ClinVar Annotator: match by term: Van der Woude syndrome
ClinVar Annotator: match by OMIM:119300
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12219090 PMID:12920575 PMID:14618417 PMID:14757865 PMID:15317890 More... NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386 		JBrowse link
G LOC100125367 hypothetical protein LOC100125367 ISO ClinVar Annotator: match by term: Van der Woude syndrome ClinVar PMID:14618417 NCBI chr13:104,692,769...104,695,368
Ensembl chr13:104,692,824...104,695,470 		JBrowse link
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 17286
    syndrome 8170
      Van der Woude syndrome 5
        Van Der Woude Syndrome 1, Modifier of 0
        Van der Woude Syndrome 2 3
Path 2
Term Annotations click to browse term
  disease 17286
    Developmental Disease 10988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9531
        Congenital Abnormalities 5606
          Musculoskeletal Abnormalities 2245
            Craniofacial Abnormalities 1966
              Maxillofacial Abnormalities 244
                Jaw Abnormalities 232
                  orofacial cleft 130
                    cleft lip 57
                      Van der Woude syndrome 5
                        Van Der Woude Syndrome 1, Modifier of 0
                        Van der Woude Syndrome 2 3
paths to the root