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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:Schaap Taylor Baraitser Syndrome
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Accession:DOID:9002323 term browser browse the term
Synonyms:exact_synonym: Cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature
 primary_id: MESH:C536626;   RDO:0002262



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10886
      Schaap Taylor Baraitser Syndrome 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      nervous system disease 14089
        Neurologic Manifestations 10052
          sensory system disease 6960
            Otorhinolaryngologic Diseases 1739
              auditory system disease 993
                Hearing Disorders 820
                  Hearing Loss 815
                    sensorineural hearing loss 625
                      Schaap Taylor Baraitser Syndrome 0
paths to the root