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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


show annotations for term's descendants           Sort by:
Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Mende Syndrome ClinVar PMID:25741868 PMID:30311386 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115 		JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Mende Syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 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: Mende Syndrome ClinVar PMID:17999358 PMID:20127975 PMID:24033266 PMID:25741868 PMID:26467025 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: Mende Syndrome ClinVar PMID:17999358 PMID:20127975 PMID:24033266 PMID:25741868 PMID:26467025 More... 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
      Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome 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
                  Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome 4
paths to the root