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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 15833
    Pathological Conditions, Signs and Symptoms 12339
      Anatomical Pathological Conditions 2682
        Facial Asymmetry 8
          Hemifacial Hyperplasia with Strabismus 0
Path 2
Term Annotations click to browse term
  disease 15833
    Pathological Conditions, Signs and Symptoms 12339
      Signs and Symptoms 10384
        Neurologic Manifestations 10060
          sensory system disease 7065
            eye disease 3622
              refractive error 240
                hyperopia 51
                  strabismus 44
                    Hemifacial Hyperplasia with Strabismus 0
paths to the root