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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 1
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Accession:DOID:0110948 term browser browse the term
Definition:A Waardenburg syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36. (DO)
Synonyms:exact_synonym: WS1;   Waardenburg syndrome type I;   Waardenburg syndrome with dystopia canthorum;   Waardenburg's syndrome type 1
 primary_id: OMIM:193500
 xref: ORDO:894


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Waardenburg syndrome type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISS
ISO		 OMIM:193500
ClinVar Annotator: match by term: Waardenburg syndrome type 1		 MouseDO
ClinVar		 PMID:8659547 PMID:16199547 PMID:20127975 PMID:25741868 PMID:28492532 More... NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145 		JBrowse link
G Pax3 paired box 3 ISO
ISS		 ClinVar Annotator: match by term: Waardenburg syndrome type 1
OMIM:193500		 OMIM
ClinVar
MouseDO		 PMID:858969 PMID:1303193 PMID:1308353 PMID:1347148 PMID:1347149 More... NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042 		JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Waardenburg syndrome type 1 ClinVar PMID:21898658 PMID:28390600 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 1 ClinVar PMID:21898658 PMID:28390600 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 21128
    syndrome 10833
      Waardenburg syndrome 15
        Waardenburg syndrome type 1 4
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 1 4
paths to the root