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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: OMIM: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 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4A ClinVar
OMIM		 PMID:7778600 PMID:8001158 PMID:8001159 PMID:8634719 PMID:8852659 More... NCBI chr11:50,073,300...50,102,879
Ensembl chr11:50,072,554...50,102,884 		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 5:9,905,359...9,917,721
Ensembl chr 5:9,855,983...9,917,726 		JBrowse link
G SOX10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4A ClinVar PMID:25741868 NCBI chr 5:9,890,439...9,901,746
Ensembl chr 5:9,891,525...9,901,743 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15274
    syndrome 9945
      Waardenburg syndrome 12
        Waardenburg Syndrome Type 4 4
          Waardenburg syndrome type 4A 3
Path 2
Term Annotations click to browse term
  disease 15274
    Developmental Disease 13236
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12325
        genetic disease 11991
          monogenic disease 10030
            autosomal genetic disease 9258
              autosomal dominant disease 6127
                Waardenburg syndrome 12
                  Waardenburg Syndrome Type 4 4
                    Waardenburg syndrome type 4A 3
paths to the root