Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 2D
go back to main search page
Accession:DOID:0110952 term browser browse the term
Definition:A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in homozygous deletion of the SNAI2 gene on chromosome 8q11. (DO)
Synonyms:exact_synonym: WS2D;   Waardenburg Syndrome, Type IID
 primary_id: MESH:C563839;   RDO:0012995
 alt_id: OMIM:608890
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Waardenburg syndrome type 2D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snai2 snail family transcriptional repressor 2 ISO ClinVar Annotator: match by OMIM:608890 OMIM
ClinVar
PMID:12444107 NCBI chr11:90,404,421...90,406,730
Ensembl chr11:90,403,333...90,406,797
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    syndrome 7653
      Waardenburg's syndrome 13
        Waardenburg syndrome type 2D 1
Path 2
Term Annotations click to browse term
  disease 16929
    Developmental Disease 10581
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8889
        genetic disease 8402
          monogenic disease 6348
            autosomal genetic disease 5501
              autosomal dominant disease 3756
                Waardenburg's syndrome 13
                  Waardenburg syndrome type 2D 1
paths to the root