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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 53596
    Pathological Conditions, Signs and Symptoms 30470
      Anatomical Pathological Conditions 3617
        Facial Asymmetry 8
          Hemifacial Hyperplasia with Strabismus 0
Path 2
Term Annotations click to browse term
  disease 53596
    Pathological Conditions, Signs and Symptoms 30470
      Signs and Symptoms 22428
        Neurologic Manifestations 18593
          sensory system disease 12827
            eye disease 5941
              refractive error 337
                hyperopia 55
                  strabismus 48
                    Hemifacial Hyperplasia with Strabismus 0
paths to the root