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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 41189
    sensory system disease 9728
      auditory system disease 1338
        HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 0
Path 2
Term Annotations click to browse term
  disease 41189
    Pathological Conditions, Signs and Symptoms 21466
      Signs and Symptoms 16320
        Neurologic Manifestations 15387
          sensory system disease 9728
            Otorhinolaryngologic Diseases 2279
              auditory system disease 1338
                Hearing Disorders 1138
                  Hearing Loss 1132
                    Deafness 649
                      HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 0
paths to the root