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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;   RDO:0001287
 alt_id: OMIM:115470
 xref: NCI:C75477
For additional species annotation, visit the Alliance of Genome Resources.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    syndrome 8125
      Schmid-Fraccaro Syndrome 0
Path 2
Term Annotations click to browse term
  disease 17208
    disease of anatomical entity 16554
      nervous system disease 12100
        sensory system disease 5611
          eye disease 2732
            Eye Abnormalities 399
              Schmid-Fraccaro Syndrome 0
paths to the root