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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:Schlegelberger Grote Syndrome
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Accession:DOID:9006704 term browser browse the term
Synonyms:exact_synonym: Syndrome with triphalangia of thumbs, thrombasthenia Glanzmann and deafness of internal ear;   Triphalangeal thumbs thrombocytopathy deafness
 primary_id: MESH:C536635;   RDO:0002272


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    syndrome 11370
      Schlegelberger Grote Syndrome 0
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14355
        Neurologic Manifestations 10445
          sensory system disease 7373
            Otorhinolaryngologic Diseases 1797
              auditory system disease 1063
                Hearing Disorders 848
                  Hearing Loss 843
                    Deafness 386
                      Schlegelberger Grote Syndrome 0
paths to the root