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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:Waardenburg syndrome type 4A
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Accession:DOID:0110953 term browser browse the term
Definition:A Waardenburg 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;   WS4A;   Waardenburg syndrome type IVA
 primary_id: MIM:277580



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Waardenburg syndrome type 4A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednrb endothelin receptor type B ISS
ISO
OMIM:277580
ClinVar Annotator: match by term: Waardenburg syndrome type 4A
MouseDO
ClinVar
OMIM
PMID:7778600 PMID:8001158 PMID:8001159 PMID:8634719 PMID:8852659 More... NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4A ClinVar PMID:25741868 NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4A ClinVar PMID:25741868 NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19076
    syndrome 11109
      Waardenburg syndrome 15
        Waardenburg Syndrome Type 4 7
          Waardenburg syndrome type 4A 3
Path 2
Term Annotations click to browse term
  disease 19076
    Developmental Disease 14561
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13608
        genetic disease 13283
          monogenic disease 10664
            autosomal genetic disease 9837
              autosomal dominant disease 6521
                Waardenburg syndrome 15
                  Waardenburg Syndrome Type 4 7
                    Waardenburg syndrome type 4A 3
paths to the root