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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's 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
For additional species annotation, visit the Alliance of Genome Resources.



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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:25741868 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 ClinVar Annotator: match by term: Waardenburg syndrome type 1 OMIM
ClinVar
PMID:1303193 PMID:1308353 PMID:1347148 PMID:1347149 PMID:1887852 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...110,735,544
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 18215
    syndrome 9746
      Waardenburg's syndrome 15
        Waardenburg syndrome type 1 4
Path 2
Term Annotations click to browse term
  disease 18215
    Developmental Disease 13067
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11805
        genetic disease 11316
          monogenic disease 8884
            autosomal genetic disease 7927
              autosomal dominant disease 5419
                Waardenburg's syndrome 15
                  Waardenburg syndrome type 1 4
paths to the root