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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:Schmid-Fraccaro Syndrome
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Accession:DOID:9007048 term browser browse the term
Synonyms:exact_synonym: CES;   Cat Eye syndrome;   Chromosome 22 partial tetrasomy;   INV DUP(22)(Q11)
 primary_id: MESH:C535918
 alt_id: OMIM:115470
 xref: NCI:C75477


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    syndrome 10064
      Schmid-Fraccaro Syndrome 0
Path 2
Term Annotations click to browse term
  disease 17773
    Pathological Conditions, Signs and Symptoms 12020
      Signs and Symptoms 9897
        Neurologic Manifestations 9572
          sensory system disease 6589
            eye disease 3365
              Eye Abnormalities 774
                Schmid-Fraccaro Syndrome 0
paths to the root