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ONTOLOGY REPORT - ANNOTATIONS


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
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Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edn3 endothelin 3 JBrowse link 3 172,856,730 172,879,276 RGD:8554872
G Ednrb endothelin receptor type B JBrowse link 15 88,004,775 88,036,354 RGD:8554872
G Pax3 paired box 3 JBrowse link 9 84,004,004 84,101,226 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    syndrome 6097
      Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome 3
Path 2
Term Annotations click to browse term
  disease 15992
    Developmental Diseases 9280
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8094
        genetic disease 7612
          monogenic disease 5382
            autosomal genetic disease 4347
              autosomal dominant disease 2713
                Waardenburg's syndrome 12
                  Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.