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ONTOLOGY REPORT - ANNOTATIONS
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 JBrowse Chr Start Stop Reference
G Grhl3 grainyhead-like transcription factor 3 JBrowse link 5 153,893,039 153,925,045 RGD:13592920
RGD:8554872
G Irf6 interferon regulatory factor 6 JBrowse link 13 111,870,121 111,889,328 RGD:7240710
RGD:8554872
RGD:11554173
G LOC100125367 hypothetical protein LOC100125367 JBrowse link 13 111,890,825 111,893,308 RGD:8554872
Van der Woude Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cfap57 cilia and flagella associated protein 57 JBrowse link 5
5		 137,383,065
137,652,118		 137,458,594
137,670,067		 RGD:8554872
G Grhl3 grainyhead-like transcription factor 3 JBrowse link 5 153,893,039 153,925,045 RGD:7240710
RGD:8554872
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    syndrome 5215
      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 15603
    Developmental Diseases 8772
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7555
        Congenital Abnormalities 3620
          Musculoskeletal Abnormalities 1313
            Craniofacial Abnormalities 1056
              Maxillofacial Abnormalities 208
                Jaw Abnormalities 205
                  orofacial cleft 115
                    cleft lip 51
                      Van der Woude syndrome 4
                        Van Der Woude Syndrome 1, Modifier of 0
                        Van der Woude Syndrome 2 2
paths to the root

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