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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 2
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Accession:DOID:9002843 term browser browse the term
Synonyms:exact_synonym: WS2
 narrow_synonym: WAARDENBURG SYNDROME TYPE 2D
 xref: NCI:C75009


show annotations for term's descendants           Sort by:
Waardenburg Syndrome Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Waardenburg syndrome type 2 ClinVar PMID:9536098 PMID:17576681 PMID:21373256 PMID:21438779 PMID:25741868 More... NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145 		JBrowse link
G Snai2 snail family transcriptional repressor 2 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 2D ClinVar PMID:12444107 PMID:32975012 NCBI chr11:86,182,788...86,186,203
Ensembl chr11:86,181,909...86,186,200 		JBrowse link
Waardenburg syndrome type 2A term browser
Symbol Object Name Qualifiers 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 2A ClinVar PMID:8852659 PMID:10090908 PMID:10874640 PMID:16145050 PMID:16954478 More... NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115 		JBrowse link
G Mitf melanocyte inducing transcription factor susceptibility ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: WAARDENBURG SYNDROME WITHOUT DYSTOPIA CANTHORUM | ClinVar Annotator: match by term: Waardenburg syndrome type 2A
OMIM:193510		 CTD
ClinVar
OMIM
MouseDO		 PMID:666627 PMID:2440678 PMID:7874167 PMID:8589691 PMID:8659547 More... NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145 		JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Waardenburg syndrome type 2A ClinVar PMID:25741868 PMID:29407415 PMID:30311386 PMID:34599368 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 2A ClinVar PMID:25741868 PMID:29407415 PMID:30311386 PMID:34599368 NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544 		JBrowse link
Waardenburg syndrome type 2E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9158138 NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145 		JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Waardenburg syndrome type 2E | ClinVar Annotator: match by term: Waardenburg syndrome type 2E, with neurologic involvement | ClinVar Annotator: match by term: Waardenburg syndrome type 2E, without neurologic involvement ClinVar PMID:8911608 PMID:10077527 PMID:10441344 PMID:15004559 PMID:17999358 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 2E | ClinVar Annotator: match by term: Waardenburg syndrome type 2E, with neurologic involvement | ClinVar Annotator: match by term: Waardenburg syndrome type 2E, without neurologic involvement
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:c.621C>A (p.Y207X)(human)
DNA:deletion:cds:c.743_744delAG (p.E248fsX30)(human)		 OMIM
ClinVar
CTD
RGD		 PMID:8911608 PMID:10077527 PMID:10441344 PMID:15004559 PMID:17999358 More... RGD:12832750, RGD:12802337 NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544 		JBrowse link
Waardenburg Syndrome Type 2F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kitlg KIT ligand ISO ClinVar Annotator: match by term: Waardenburg syndrome, type 2F OMIM
ClinVar		 PMID:25741868 PMID:28504826 PMID:35543077 NCBI chr 7:34,896,075...34,977,215
Ensembl chr 7:34,896,053...34,977,214 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Waardenburg syndrome 15
        Waardenburg Syndrome Type 2 6
          Waardenburg Syndrome Type 2F 1
          Waardenburg syndrome type 2A 4
          Waardenburg syndrome type 2B 0
          Waardenburg syndrome type 2C 0
          Waardenburg syndrome type 2E 3
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal dominant disease 6235
                Waardenburg syndrome 15
                  Waardenburg Syndrome Type 2 6
                    Waardenburg Syndrome Type 2F 1
                    Waardenburg syndrome type 2A 4
                    Waardenburg syndrome type 2B 0
                    Waardenburg syndrome type 2C 0
                    Waardenburg syndrome type 2E 3
paths to the root