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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:Chitty Hall Baraitser Syndrome
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Accession:DOID:9000834 term browser browse the term
Synonyms:exact_synonym: Deafness, femoral epiphyseal dysplasia, short stature and developmental delay;   Growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction
 primary_id: MESH:C535928;   RDO:0001299
For additional species annotation, visit the Alliance of Genome Resources.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    syndrome 8262
      Chitty Hall Baraitser Syndrome 0
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        sensory system disease 5712
          Otorhinolaryngologic Diseases 1367
            auditory system disease 917
              Hearing Disorders 744
                Hearing Loss 740
                  sensorineural hearing loss 612
                    Chitty Hall Baraitser Syndrome 0
paths to the root