ONTOLOGY REPORT - ANNOTATIONS


Term:Waardenburg Syndrome Type 4
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Accession:DOID:9005027 term browser browse the term
Synonyms:exact_synonym: Hirschsprung disease with pigmentary anomaly;   Shah-Waardenburg syndrome;   WS4;   Waardenburg-Hirschsprung disease
 primary_id: MESH:C536467
 alt_id: RDO:0002060
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Waardenburg Syndrome Type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edn3 endothelin 3 JBrowse link 3 172,856,730 172,879,276 RGD:11554173
G Ednrb endothelin receptor type B JBrowse link 15 88,004,775 88,036,354 RGD:6480217
G Sox10 SRY box 10 JBrowse link 7 120,393,238 120,403,523 RGD:12832744
Waardenburg syndrome type 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ednrb endothelin receptor type B JBrowse link 15 88,004,775 88,036,354 RGD:7240710
RGD:8554872
G Polr2f RNA polymerase II subunit F JBrowse link 7 120,380,543 120,392,214 RGD:8554872
G Sox10 SRY box 10 JBrowse link 7 120,393,238 120,403,523 RGD:8554872
Waardenburg syndrome type 4B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edn3 endothelin 3 JBrowse link 3 172,856,730 172,879,276 RGD:7240710
RGD:8554872
Waardenburg syndrome type 4C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polr2f RNA polymerase II subunit F JBrowse link 7 120,380,543 120,392,214 RGD:8554872
G Sox10 SRY box 10 JBrowse link 7 120,393,238 120,403,523 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Waardenburg's syndrome 12
        Waardenburg Syndrome Type 4 6
          Waardenburg syndrome type 4A 3
          Waardenburg syndrome type 4B 1
          Waardenburg syndrome type 4C 2
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          monogenic disease 2855
            autosomal genetic disease 2137
              autosomal dominant disease 1098
                Waardenburg's syndrome 12
                  Waardenburg Syndrome Type 4 6
                    Waardenburg syndrome type 4A 3
                    Waardenburg syndrome type 4B 1
                    Waardenburg syndrome type 4C 2
paths to the root

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