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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:Heart Defect, Tongue Hamartoma and Polysyndactyly
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Accession:DOID:9002640 term browser browse the term
Synonyms:exact_synonym: Ostravik lindemann solberg syndrome
 primary_id: MESH:C535849;   RDO:0001184
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease of cellular proliferation 5912
      Multiple Primary Neoplasms 142
        PTEN hamartoma tumor syndrome 27
          Heart Defect, Tongue Hamartoma and Polysyndactyly 0
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          Hereditary Neoplastic Syndromes 815
            PTEN hamartoma tumor syndrome 27
              Heart Defect, Tongue Hamartoma and Polysyndactyly 0
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.