Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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:18813858, PMID:19036739, PMID:19282774, PMID:19449419, PMID:19623037, PMID:19734457, PMID:19842205, PMID:20184620, PMID:20301581, PMID:21045959, PMID:21468557, PMID:22440537, PMID:23154523, PMID:25326635, PMID:25741868, PMID:25784454, PMID:27243668, PMID:27834299, PMID:28492532 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 16103
    syndrome 6989
      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 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        Congenital Abnormalities 4791
          Musculoskeletal Abnormalities 1755
            Craniofacial Abnormalities 1455
              Maxillofacial Abnormalities 238
                Jaw Abnormalities 227
                  orofacial cleft 125
                    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

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.