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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:Meyenburg-Altherr-Uehlinger Syndrome
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Accession:DOID:9002572 term browser browse the term
Synonyms:exact_synonym: Ashkenazi syndrome;   Atrophic polychondritis, cartilagenous arthritic deafness syndrome;   Jaksch Wartenhorst's syndrome;   Jaksch' syndrome;   Von Jaksch Wartenhorst's syndrome
 primary_id: MESH:C537574;   RDO:0003438


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    syndrome 11180
      Meyenburg-Altherr-Uehlinger Syndrome 0
Path 2
Term Annotations click to browse term
  disease 19050
    Pathological Conditions, Signs and Symptoms 13532
      Signs and Symptoms 11084
        Neurologic Manifestations 10336
          sensory system disease 7255
            Otorhinolaryngologic Diseases 1790
              auditory system disease 1052
                Hearing Disorders 839
                  Hearing Loss 834
                    Deafness 383
                      Meyenburg-Altherr-Uehlinger Syndrome 0
paths to the root