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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 variant type
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Accession:DOID:0110847 term browser browse the term
Definition:A xeroderma pigmentosum characterized by normal DNA excision repair, but defective postreplication repair that has_material_basis_in mutations in the POLH gene on chromosome 6p21.1. (DO)
Synonyms:exact_synonym: Photosensitivity with defective DNA synthesis;   XPV;   Xeroderma pigmentosum with normal DNA repair rates
 primary_id: MESH:C536766;   RDO:0002449
 alt_id: OMIM:278750
 xref: GARD:5630;   NCI:C141367


show annotations for term's descendants           Sort by:
xeroderma pigmentosum variant type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polh DNA polymerase eta ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:278750
ClinVar Annotator: match by term: Xeroderma pigmentosum variant type		 OMIM
CTD
MouseDO
ClinVar		 PMID:9536098 PMID:10385124 PMID:10398605 PMID:10871396 PMID:11121129 More... NCBI chr 9:14,778,355...14,813,210
Ensembl chr 9:14,777,888...14,812,723 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Xeroderma pigmentosum variant type ClinVar PMID:9536098 PMID:10385124 PMID:10398605 PMID:10871396 PMID:11121129 More... NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      xeroderma pigmentosum 21
        xeroderma pigmentosum variant type 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 variant type 2
paths to the root