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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:Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome
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Accession:DOID:9004671 term browser browse the term
Synonyms:exact_synonym: Mende Syndrome;   Ptosis-Epicanthus Syndrome
 primary_id: MESH:C538657;   RDO:0004572
For additional species annotation, visit the Alliance of Genome Resources.


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Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Mende Syndrome ClinVar PMID:24033266 PMID:25741868 NCBI chr 9:84,004,004...84,101,226
Ensembl chr 9:84,005,183...84,101,172
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    syndrome 8015
      Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        genetic disease 8941
          monogenic disease 7120
            autosomal genetic disease 6275
              autosomal dominant disease 4449
                Waardenburg's syndrome 14
                  Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome 1
paths to the root