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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:Hemifacial Hyperplasia with Strabismus
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Accession:DOID:9003433 term browser browse the term
Synonyms:exact_synonym: Bencze Syndrome
 primary_id: MESH:C564199
 alt_id: MIM:141350


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16269
    Pathological Conditions, Signs and Symptoms 12658
      Anatomical Pathological Conditions 2797
        Facial Asymmetry 8
          Hemifacial Hyperplasia with Strabismus 0
Path 2
Term Annotations click to browse term
  disease 16269
    Pathological Conditions, Signs and Symptoms 12658
      Signs and Symptoms 10546
        Neurologic Manifestations 10203
          sensory system disease 7187
            eye disease 3718
              refractive error 246
                hyperopia 53
                  strabismus 46
                    Hemifacial Hyperplasia with Strabismus 0
paths to the root