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RGD uses the Human Disease Ontology (DO, 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:0112158 term browser browse the term
Definition:A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration. (DO)
Synonyms:exact_synonym: Desanctis-Cacchione Syndrome;   xeroderma pigmentosum with neurologic manifestation;   xeroderma pigmentosum, mental deficiency, dwarfism, and gonadal hypoplasia;   xerodermic idiocy of de Sanctis and Cacchione
 primary_id: MESH:C535992
 alt_id: OMIM:278800
 xref: GARD:8276;   NCI:C84666;   ORDO:1569
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 17126
    syndrome 8015
      xeroderma pigmentosum 19
        De Sanctis-Cacchione syndrome 1
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        central nervous system disease 10352
          brain disease 9711
            disease of mental health 7018
              developmental disorder of mental health 4361
                specific developmental disorder 3621
                  intellectual disability 3433
                    De Sanctis-Cacchione syndrome 1
paths to the root