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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:HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS
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Accession:DOID:9001647 term browser browse the term
Synonyms:exact_synonym: HPPD
 primary_id: OMIM:614187;   RDO:0010100


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    sensory system disease 6154
      auditory system disease 885
        HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 0
Path 2
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11025
      Signs and Symptoms 9123
        Neurologic Manifestations 8823
          sensory system disease 6154
            Otorhinolaryngologic Diseases 1552
              auditory system disease 885
                Hearing Disorders 721
                  Hearing Loss 716
                    Deafness 340
                      HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 0
paths to the root