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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:Disproportionate Short Stature with Ptosis and Valvular Heart Lesions
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Accession:DOID:9000472 term browser browse the term
Synonyms:primary_id: MESH:C565094
 alt_id: OMIM:126190



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40760
    disease of anatomical entity 32068
      endocrine system disease 7642
        Dwarfism 1100
          Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 0
Path 2
Term Annotations click to browse term
  disease 40760
    Pathological Conditions, Signs and Symptoms 20966
      Signs and Symptoms 16046
        Neurologic Manifestations 15118
          sensory system disease 9679
            eye disease 4887
              eyelid disease 113
                ptosis 30
                  Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 0
paths to the root