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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 4B
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Accession:DOID:0110954 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 homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13. (DO)
Synonyms:exact_synonym: WS4B;   Waardenburg syndrome type IVB;   Waardenburg syndrome with Hirschsprung disease type 4B
 primary_id: MESH:C567680
 alt_id: MIM:613265



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Waardenburg syndrome type 4B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edn3 endothelin 3 ISO
ISS
ClinVar Annotator: match by term: Waardenburg syndrome type 4B
CTD Direct Evidence: marker/mechanism
OMIM:613265
ClinVar
CTD
MouseDO
OMIM
PMID:8630503 PMID:8696331 PMID:9359047 PMID:9587491 PMID:11303518 More... NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093
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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 4B 1
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 4B 1
paths to the root