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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 15275
    Developmental Disease 13251
      bone development disease 2250
        Conductive Deafness with Ptosis and Skeletal Anomalies 0
Path 2
Term Annotations click to browse term
  disease 15275
    disease of anatomical entity 14910
      nervous system disease 13001
        Neurologic Manifestations 9482
          sensory system disease 6596
            Otorhinolaryngologic Diseases 1644
              auditory system disease 931
                Hearing Disorders 758
                  Hearing Loss 752
                    Conductive Hearing Loss 10
                      Conductive Deafness with Ptosis and Skeletal Anomalies 0
paths to the root