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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 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
 xref: NCI:C124842;   ORDO:897
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
Waardenburg Syndrome Type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edn3 endothelin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8630502 PMID:8630503 PMID:17516928 NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093
JBrowse link
G Ednrb endothelin receptor type B IAGP
ISO
ClinVar Annotator: match by term: Hirschsprung disease with pigmentary anomaly ClinVar
RGD
PMID:16944573 PMID:18162831 PMID:25741868 PMID:30303587 PMID:32747562 More... RGD:6480217 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
JBrowse link
G Ednrbsl endothelin receptor type B, spotting lethal IAGP RGD PMID:21915282 RGD:6480217
G Sox10 SRY-box transcription factor 10 ISO DNA:missense mutations,insertion,deletion:cds: RGD PMID:9462749 RGD:12832744 NCBI chr 7:110,725,274...110,735,544
Ensembl chr 7:110,725,274...110,735,544
JBrowse link
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 OMIM
ClinVar
PMID:7778600 PMID:8001158 PMID:8634719 PMID:8852659 PMID:8852660 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...110,735,544
Ensembl chr 7:110,725,274...110,735,544
JBrowse link
Waardenburg syndrome type 4B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edn3 endothelin 3 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4B OMIM
ClinVar
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
JBrowse link
Waardenburg syndrome type 4C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4C ClinVar PMID:9462749 PMID:10077527 PMID:18348274 PMID:24033266 PMID:25741868 More... 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 4C OMIM
ClinVar
PMID:9462749 PMID:10077527 PMID:18348274 PMID:24033266 PMID:25741868 More... NCBI chr 7:110,725,274...110,735,544
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 18256
    syndrome 9802
      Waardenburg's syndrome 15
        Waardenburg Syndrome Type 4 7
          Waardenburg syndrome type 4A 3
          Waardenburg syndrome type 4B 1
          Waardenburg syndrome type 4C 2
Path 2
Term Annotations click to browse term
  disease 18256
    Developmental Disease 13110
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11866
        genetic disease 11373
          monogenic disease 8946
            autosomal genetic disease 7992
              autosomal dominant disease 5476
                Waardenburg's syndrome 15
                  Waardenburg Syndrome Type 4 7
                    Waardenburg syndrome type 4A 3
                    Waardenburg syndrome type 4B 1
                    Waardenburg syndrome type 4C 2
paths to the root