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ONTOLOGY REPORT - ANNOTATIONS


Term:xeroderma pigmentosum
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Accession:DOID:0050427 term browser browse the term
Definition:A rare, pigmentary, and atrophic autosomal recessive disease. It is manifested as an extreme photosensitivity to ULTRAVIOLET RAYS as the result of a deficiency in the enzyme that permits excisional repair of ultraviolet-damaged DNA.
Synonyms:exact_synonym: Kaposi Disease;   Kaposi's Disease;   Kaposis Disease
 primary_id: MESH:D014983
 alt_id: RDO:0001391
 xref: GARD:7910;   ORDO:910
For additional species annotation, visit the Alliance of Genome Resources.


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xeroderma pigmentosum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddb1 damage-specific DNA binding protein 1 JBrowse link 1 226,657,561 226,683,356 RGD:7246919
G Ddb2 damage specific DNA binding protein 2 JBrowse link 3 80,030,437 80,052,984 RGD:1601050
RGD:8554872
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 1 80,256,973 80,268,198 RGD:8554872
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:1601068
RGD:8554872
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 18 25,037,668 25,068,380 RGD:1598912
RGD:8554872
RGD:7246919
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit JBrowse link 10 2,010,140 2,037,953 RGD:1601093
RGD:8554872
RGD:7246919
G Ercc5 ERCC excision repair 5, endonuclease JBrowse link 9 50,928,847 50,970,962 RGD:7246919
RGD:8554872
G Gtpbp2 GTP binding protein 2 JBrowse link 9 17,198,957 17,208,456 RGD:8554872
G Klc3 kinesin light chain 3 JBrowse link 1 80,306,074 80,315,886 RGD:8554872
G Polh DNA polymerase eta JBrowse link 9 17,163,354 17,198,006 RGD:11554173
RGD:8554872
G Terf2 telomeric repeat binding factor 2 JBrowse link 19 39,271,992 39,301,506 RGD:13592920
G Tmem43 transmembrane protein 43 JBrowse link 4 123,118,468 123,133,610 RGD:8554872
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:1331525
G Xpa XPA, DNA damage recognition and repair factor JBrowse link 5 61,749,767 61,793,641 RGD:1331525
RGD:8554872
RGD:11554173
RGD:7246919
RGD:1599876
G Xpc XPC complex subunit, DNA damage recognition and repair factor JBrowse link 4 123,134,457 123,161,985 RGD:1599878
RGD:8554872
RGD:11554173
RGD:7246919
De Sanctis-Cacchione Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:7240710
RGD:8554872
RGD:11554173
Photosensitive Trichothiodystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:7240710
RGD:8554872
G Gtf2h5 general transcription factor IIH subunit 5 JBrowse link 1 46,978,345 46,985,032 RGD:7246919
RGD:8554872
G Mplkip M-phase specific PLK1 interacting protein JBrowse link 17 49,955,060 49,990,982 RGD:8554872
xeroderma pigmentosum group A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Xpa XPA, DNA damage recognition and repair factor JBrowse link 5 61,749,767 61,793,641 RGD:8554872
RGD:7240710
G Xpc XPC complex subunit, DNA damage recognition and repair factor JBrowse link 4 123,134,457 123,161,985 RGD:8554872
xeroderma pigmentosum group B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 18 25,037,668 25,068,380 RGD:7240710
RGD:8554872
xeroderma pigmentosum group C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem43 transmembrane protein 43 JBrowse link 4 123,118,468 123,133,610 RGD:8554872
G Xpc XPC complex subunit, DNA damage recognition and repair factor JBrowse link 4 123,134,457 123,161,985 RGD:7240710
RGD:8554872
xeroderma pigmentosum group D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:7240710
RGD:8554872
xeroderma pigmentosum group E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddb2 damage specific DNA binding protein 2 JBrowse link 3 80,030,437 80,052,984 RGD:7240710
RGD:8554872
RGD:11554173
xeroderma pigmentosum group F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit JBrowse link 10 2,010,140 2,037,953 RGD:7240710
RGD:8554872
xeroderma pigmentosum group G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc5 ERCC excision repair 5, endonuclease JBrowse link 9 50,928,847 50,970,962 RGD:7240710
RGD:8554872
xeroderma pigmentosum variant type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polh DNA polymerase eta JBrowse link 9 17,163,354 17,198,006 RGD:7240710
RGD:8554872
XFE progeroid syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 1 80,256,973 80,268,198 RGD:13592920
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit JBrowse link 10 2,010,140 2,037,953 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    disease of cellular proliferation 5566
      pre-malignant neoplasm 278
        xeroderma pigmentosum 18
          De Sanctis-Cacchione Syndrome 1
          Photosensitive Trichothiodystrophy 1 3
          XFE progeroid syndrome 2
          Xeroderma Pigmentosum, Autosomal Dominant, Mild 0
          Xeroderma Pigmentosum, Type 9 0
          xeroderma pigmentosum group A 2
          xeroderma pigmentosum group B + 1
          xeroderma pigmentosum group C 2
          xeroderma pigmentosum group D 1
          xeroderma pigmentosum group E 1
          xeroderma pigmentosum group F 1
          xeroderma pigmentosum group G + 1
          xeroderma pigmentosum variant type 1
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          monogenic disease 2854
            autosomal genetic disease 2132
              autosomal recessive disease 1250
                xeroderma pigmentosum 18
                  De Sanctis-Cacchione Syndrome 1
                  Photosensitive Trichothiodystrophy 1 3
                  XFE progeroid syndrome 2
                  Xeroderma Pigmentosum, Autosomal Dominant, Mild 0
                  Xeroderma Pigmentosum, Type 9 0
                  xeroderma pigmentosum group A 2
                  xeroderma pigmentosum group B + 1
                  xeroderma pigmentosum group C 2
                  xeroderma pigmentosum group D 1
                  xeroderma pigmentosum group E 1
                  xeroderma pigmentosum group F 1
                  xeroderma pigmentosum group G + 1
                  xeroderma pigmentosum variant type 1
paths to the root