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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 E
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Accession:DOID:0110846 term browser browse the term
Definition:A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the DDB2 gene on chromosome 11p11. (DO)
Synonyms:exact_synonym: XP, Group E;   XP5;   XPE;   Xeroderma Pigmentosum V;   Xeroderma Pigmentosum, Complementation Group E
 primary_id: MESH:C564732;   RDO:0013595
 alt_id: OMIM:278740
 xref: NCI:C114771


show annotations for term's descendants           Sort by:
xeroderma pigmentosum group E term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDB2 damage specific DNA binding protein 2 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Xeroderma pigmentosum, group E
OMIM:278740
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
OMIM
CTD		 PMID:8798680 PMID:10469312 PMID:10585395 PMID:10777490 PMID:12812979 More... NCBI chr11:47,214,454...47,239,217
Ensembl chr11:47,214,465...47,239,217 		JBrowse link
G LOC126861205 MED14-independent group 3 enhancer GRCh37_chr11:47236089-47237288 IAGP ClinVar Annotator: match by term: Xeroderma pigmentosum, group E ClinVar PMID:25741868 PMID:28492532 NCBI chr11:47,214,415...47,215,737 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18075
      xeroderma pigmentosum 31
        xeroderma pigmentosum group E 2
Path 2
Term Annotations click to browse term
  disease 41189
    Pathological Conditions, Signs and Symptoms 21466
      Signs and Symptoms 16320
        Neurologic Manifestations 15387
          sensory system disease 9730
            skin disease 4874
              dermatitis 536
                photosensitivity disease 44
                  xeroderma pigmentosum 31
                    xeroderma pigmentosum group E 2
paths to the root