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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 5:153,893,039...153,925,045
Ensembl chr 5:153,893,039...153,924,896 		JBrowse link
G Irf6 interferon regulatory factor 6 ISO 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 PMID:15472655 PMID:15558496 PMID:16096995 PMID:16160700 PMID:16211254 PMID:16998136 PMID:17551329 PMID:18209213 PMID:18478600 PMID:18617879 PMID:18813858 PMID:19036739 PMID:19282774 PMID:19449419 PMID:19623037 PMID:19734457 PMID:19842205 PMID:20184620 PMID:20301581 PMID:21045959 PMID:21468557 PMID:22440537 PMID:22488974 PMID:23154523 PMID:24936515 PMID:25326635 PMID:25547932 PMID:25548624 PMID:25741868 PMID:25784454 PMID:27243668 PMID:27834299 PMID:28492532 PMID:29453417 NCBI chr13:111,870,121...111,889,328
Ensembl chr13:111,870,121...111,889,328 		JBrowse link
G LOC100125367 hypothetical protein LOC100125367 ISO ClinVar Annotator: match by term: Van der Woude syndrome ClinVar PMID:14618417 NCBI chr13:111,890,825...111,893,308
Ensembl chr13:111,890,894...111,893,306 		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 5:137,383,065...137,458,594
NCBI chr 5:137,652,118...137,670,067
Ensembl chr 5:137,383,048...137,458,184
Ensembl chr 5:137,383,048...137,458,184 		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:20184620 PMID:24360809 PMID:28492532 NCBI chr 5:153,893,039...153,925,045
Ensembl chr 5:153,893,039...153,924,896 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Van der Woude syndrome 4
        Van Der Woude Syndrome 1, Modifier of 0
        Van der Woude Syndrome 2 2
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        Congenital Abnormalities 4795
          Musculoskeletal Abnormalities 1781
            Craniofacial Abnormalities 1480
              Maxillofacial Abnormalities 250
                Jaw Abnormalities 238
                  orofacial cleft 132
                    cleft lip 58
                      Van der Woude syndrome 4
                        Van Der Woude Syndrome 1, Modifier of 0
                        Van der Woude Syndrome 2 2
paths to the root