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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 D
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Accession:DOID:0110845 term browser browse the term
Definition:A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13. (DO)
Synonyms:exact_synonym: XP, Group D;   XP, group H;   XP4;   XP4 XERODERMA PIGMENTOSUM VIII;   XP8;   XPD;   XPDC;   XPH;   xeroderma pigmentosum IV;   xeroderma pigmentosum VIII
 primary_id: MESH:C562591
 alt_id: MIM:278730;   RDO:0012239

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xeroderma pigmentosum group D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group D ClinVar NCBI chrNW_004955555:2,393,510...2,430,180
Ensembl chrNW_004955555:2,393,278...2,406,582 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: XP4 XERODERMA PIGMENTOSUM VIII | ClinVar Annotator: match by term: Xeroderma pigmentosum, group D OMIM
ClinVar		 PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9101292 More... NCBI chrNW_004955555:2,355,005...2,369,599
Ensembl chrNW_004955555:2,355,005...2,369,599 		JBrowse link
G Klc3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group D ClinVar PMID:25741868 NCBI chrNW_004955555:2,346,241...2,355,529
Ensembl chrNW_004955555:2,349,999...2,355,529 		JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: XP4 XERODERMA PIGMENTOSUM VIII ClinVar PMID:25741868 PMID:28492532 PMID:33471991 NCBI chrNW_004955441:14,451,207...14,471,316
Ensembl chrNW_004955441:14,451,307...14,471,227 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14316
    syndrome 9733
      xeroderma pigmentosum 18
        xeroderma pigmentosum group D 4
Path 2
Term Annotations click to browse term
  disease 14316
    Pathological Conditions, Signs and Symptoms 11309
      Signs and Symptoms 9498
        Neurologic Manifestations 9193
          sensory system disease 6527
            skin disease 3831
              dermatitis 467
                photosensitivity disease 28
                  xeroderma pigmentosum 18
                    xeroderma pigmentosum group D 4
paths to the root