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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: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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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
OMIM
CTD
ClinVar
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:26206375 PMID:26218421 PMID:26620705 PMID:27004399 PMID:27186691 PMID:27356891 PMID:28170084 PMID:28440418 PMID:28492532 PMID:29203878 PMID:29572252 PMID:29915382 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 16937
    syndrome 7656
      xeroderma pigmentosum 19
        De Sanctis-Cacchione syndrome 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        central nervous system disease 10208
          brain disease 9580
            disease of mental health 6937
              developmental disorder of mental health 4277
                specific developmental disorder 3535
                  intellectual disability 3388
                    De Sanctis-Cacchione syndrome 1
paths to the root