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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:Conductive Deafness with Ptosis and Skeletal Anomalies
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Accession:DOID:9008149 term browser browse the term
Synonyms:exact_synonym: Deafness Conductive Ptosis Skeletal Anomalies;   Jackson Barr syndrome
 primary_id: MESH:C535993
 alt_id: MIM:221320

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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14197
    Developmental Disease 12372
      bone development disease 2155
        Conductive Deafness with Ptosis and Skeletal Anomalies 0
Path 2
Term Annotations click to browse term
  disease 14197
    disease of anatomical entity 13866
      nervous system disease 12143
        Neurologic Manifestations 8911
          sensory system disease 6250
            Otorhinolaryngologic Diseases 1568
              auditory system disease 894
                Hearing Disorders 729
                  Hearing Loss 724
                    Conductive Hearing Loss 10
                      Conductive Deafness with Ptosis and Skeletal Anomalies 0
paths to the root