Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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 B
go back to main search page
Accession:DOID:0110850 term browser browse the term
Definition:A xeroderma pigmentosum characterized by that has_material_basis_in mutation in the ERCC3 gene on chromosome 2q14. (DO)
Synonyms:exact_synonym: XPB;   XPBC;   xeroderma pigmentosum, complementation group B
 narrow_synonym: XP, GROUP B;   XPB/CS;   XPBC XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME
 primary_id: MESH:C562590
 alt_id: OMIM:610651;   RDO:0012238
 xref: NCI:C3966
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
xeroderma pigmentosum group B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by OMIM:610651
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Xeroderma pigmentosum, complementation group b
OMIM
ClinVar
PMID:2167179, PMID:4811796, PMID:8304337, PMID:8408834, PMID:8663148, PMID:16947863, PMID:24728327, PMID:25741868, PMID:26023681, PMID:26467025, PMID:27004399, PMID:27153395, PMID:27356891, PMID:27655433, PMID:28492532, PMID:29478780, PMID:30311386, PMID:30787465 NCBI chr18:25,037,668...25,068,380
Ensembl chr18:25,037,625...25,068,389
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      xeroderma pigmentosum 18
        xeroderma pigmentosum group B 1
          Xeroderma Pigmentosum B / Cockayne Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                xeroderma pigmentosum 18
                  xeroderma pigmentosum group B 1
                    Xeroderma Pigmentosum B / Cockayne Syndrome 0
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.