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
Accession: DOID:0060239
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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 .
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
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
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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
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
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
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