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ONTOLOGY REPORT - ANNOTATIONS


Term:Waardenburg syndrome type 4A
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Accession:DOID:0110953 term browser browse the term
Definition:A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22. (DO)
Synonyms:exact_synonym: WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4A;   WAARDENBURG SYNDROME, TYPE IVA;   WS4A
 primary_id: OMIM:277580;   RDO:0008533
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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 transcription factor 10 JBrowse link 7 120,393,238 120,403,523 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    syndrome 5231
      Waardenburg's syndrome 12
        Waardenburg syndrome type 4A 3
Path 2
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        genetic disease 7068
          monogenic disease 4712
            autosomal genetic disease 3674
              autosomal dominant disease 2170
                Waardenburg's syndrome 12
                  Waardenburg Syndrome Type 4 6
                    Waardenburg syndrome type 4A 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.