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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:De Sanctis-Cacchione Syndrome
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Accession:DOID:9002218 term browser browse the term
Synonyms:exact_synonym: Desanctis-Cacchione Syndrome;   Xeroderma pigmentosum, mental deficiency, dwarfism, and gonadal hypoplasia;   Xerodermic idiocy of de Sanctis and Cacchione
 primary_id: MESH:C535992;   RDO:0001390
 alt_id: OMIM:278800
 xref: NCI:C84666
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 16035
    syndrome 7010
      De Sanctis-Cacchione Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        central nervous system disease 9050
          brain disease 8375
            disease of mental health 6052
              developmental disorder of mental health 3165
                specific developmental disorder 2344
                  intellectual disability 2167
                    De Sanctis-Cacchione Syndrome 1
paths to the root