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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: MIM:614187;   RDO:0010100

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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 10488
    sensory system disease 4246
      auditory system disease 669
        HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 0
Path 2
Term Annotations click to browse term
  disease 10488
    Pathological Conditions, Signs and Symptoms 7414
      Signs and Symptoms 5648
        Neurologic Manifestations 5234
          sensory system disease 4246
            Otorhinolaryngologic Diseases 1078
              auditory system disease 669
                Hearing Disorders 511
                  Hearing Loss 505
                    Deafness 275
                      HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 0
paths to the root