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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:xeroderma pigmentosum group C
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Accession:DOID:0110844 term browser browse the term
Definition:A xeroderma pigmentosum characterized by increased propensity to develop malignant melanoma that has_material_basis_in mutation in the XPC gene on chromosome 3p25. (DO)
Synonyms:exact_synonym: XP group C;   XP3;   XPC;   XPCC;   Xeroderma Pigmentosum, Complementation Group C;   xeroderma pigmentosum III
 primary_id: MESH:C567886
 alt_id: OMIM:278720
 xref: NCI:C114770


show annotations for term's descendants           Sort by:
xeroderma pigmentosum group C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group C ClinVar PMID:18414213 PMID:23400628 PMID:25741868 PMID:28492532 NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825 		JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:278720
ClinVar Annotator: match by term: Xeroderma pigmentosum, group C		 OMIM
CTD
MouseDO
ClinVar		 PMID:8298653 PMID:9536098 PMID:9804340 PMID:10766188 PMID:11511294 More... NCBI chr 4:123,993,670...124,020,922
Ensembl chr 4:123,993,666...124,021,010 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      xeroderma pigmentosum 21
        xeroderma pigmentosum group C 2
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              dermatitis 481
                photosensitivity disease 33
                  xeroderma pigmentosum 21
                    xeroderma pigmentosum group C 2
paths to the root