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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: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
For additional species annotation, visit the Alliance of Genome Resources.

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De Sanctis-Cacchione Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME
PMID:1372469, PMID:7063265, PMID:9443879, PMID:10196384, PMID:10767341, PMID:11809892, PMID:18414213, PMID:18628313, PMID:18784753, PMID:19894250, PMID:20122405, PMID:20456449, PMID:21143350, PMID:21228398, PMID:22661500, PMID:22904069, PMID:23311583, PMID:23422418, PMID:23428416, PMID:24154677, PMID:25136123, PMID:25326635, PMID:25356239, PMID:25463447, PMID:25741868, PMID:25820262, PMID:26204423, PMID:26206375, PMID:26218421, PMID:26620705, PMID:26749132, PMID:27004399, PMID:27186691, PMID:27356891, PMID:28170084, PMID:28440418, PMID:28492532, PMID:29203878, PMID:29572252, PMID:29915382, PMID:30311386 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      De Sanctis-Cacchione Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            disease of mental health 5991
              developmental disorder of mental health 3111
                specific developmental disorder 2287
                  intellectual disability 2107
                    De Sanctis-Cacchione Syndrome 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.