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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
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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
 xref: GARD:7910;   NCI:C3452;   ORDO:910
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
xeroderma pigmentosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddb1 damage-specific DNA binding protein 1 ISO RGD PMID:22824526 RGD:7246919 NCBI chr 1:207,252,890...207,278,685
Ensembl chr 1:207,252,890...207,278,676
JBrowse link
G Ddb2 damage specific DNA binding protein 2 susceptibility ISO DNA:transitions: :p.K244E, p.R273H
ClinVar Annotator: match by term: Xeroderma pigmentosum
ClinVar PMID:8798680 RGD:1601050 NCBI chr 3:77,185,114...77,207,650
Ensembl chr 3:77,185,109...77,207,631
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO XPD,OMIM:278730;DNA:point mutation:exon:L461V, Q726X,
ClinVar Annotator: match by term: Xeroderma pigmentosum
ClinVar PMID:7920640 PMID:8571952 PMID:9238033 PMID:11443545 PMID:11710928 More... RGD:1601068 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
JBrowse link
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:25741868 PMID:26023681 PMID:27004399 PMID:27153395 PMID:27356891 More... RGD:1598912, RGD:7246919 NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329
JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO DNA:deletion, point mutation:2281delTCTC, p.R788W
ClinVar Annotator: match by term: Xeroderma pigmentosum
ClinVar PMID:25741868 PMID:8797827 PMID:22824526 RGD:1601093, RGD:7246919 NCBI chr10:2,416,259...2,448,364 JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:7951246 PMID:11841555 PMID:23370536 PMID:24033266 PMID:24700531 More... RGD:7246919 NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
JBrowse link
G Gtpbp2 GTP binding protein 2 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar NCBI chr 9:14,813,964...14,823,419
Ensembl chr 9:14,813,964...14,823,241
JBrowse link
G Klc3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar NCBI chr 1:79,045,842...79,055,809
Ensembl chr 1:79,045,844...79,055,416
JBrowse link
G Polh DNA polymerase eta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Xeroderma pigmentosum
CTD
ClinVar
PMID:17344931 PMID:18368133 PMID:18703314 PMID:22745795 PMID:24033266 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 ClinVar PMID:17344931 PMID:18368133 PMID:18703314 PMID:24033266 PMID:25741868 NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
JBrowse link
G Terf2 telomeric repeat binding factor 2 ISS MouseDO NCBI chr19:34,976,963...35,005,813
Ensembl chr19:34,977,471...35,005,819
JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:18414213 PMID:19434073 PMID:21047201 PMID:22992668 PMID:23400628 More... NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825
JBrowse link
G Tp53 tumor protein p53 ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Xpa XPA, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Xeroderma pigmentosum
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1372102 PMID:1372103 PMID:1702221 PMID:2234061 PMID:7876263 More... RGD:1331525, RGD:7246919, RGD:1599876 NCBI chr 5:60,431,673...60,476,438
Ensembl chr 5:60,431,673...60,475,726
JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Xeroderma pigmentosum
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10766188 PMID:11511294 PMID:15654957 PMID:16081512 PMID:16199547 More... RGD:1599878, RGD:7246919 NCBI chr 4:123,993,670...124,020,922
Ensembl chr 4:123,993,666...124,021,010
JBrowse link
De Sanctis-Cacchione syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:887325 PMID:1339317 PMID:7063265 PMID:9150142 PMID:9443879 More... NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
JBrowse link
photosensitive trichothiodystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive
ClinVar Annotator: match by OMIM:601675
OMIM
ClinVar
PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9195225 More... NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
JBrowse link
G Gtf2h5 general transcription factor IIH subunit 5 ISO RGD PMID:22824526 RGD:7246919 NCBI chr 1:46,656,804...46,663,512
Ensembl chr 1:46,656,859...46,664,939
JBrowse link
G Mplkip M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr17:47,373,624...47,376,199
Ensembl chr17:47,373,845...47,376,204
JBrowse link
Xeroderma Pigmentosum G / Cockayne Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Xeroderma pigmentosum group g/Cockayne syndrome
ClinVar Annotator: match by term: Xeroderma pigmentosum and Cockayne syndrome complex
ClinVar PMID:2478446 PMID:8317483 PMID:11228268 PMID:25741868 NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
JBrowse link
xeroderma pigmentosum group A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xpa XPA, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: XP, group A
ClinVar Annotator: match by term: Xeroderma pigmentosum group A
ClinVar Annotator: match by term: XP, GROUP A
ClinVar
OMIM
PMID:1339397 PMID:1352672 PMID:1372102 PMID:1372103 PMID:1702221 More... NCBI chr 5:60,431,673...60,476,438
Ensembl chr 5:60,431,673...60,475,726
JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: XP, group A ClinVar PMID:26227012 NCBI chr 4:123,993,670...124,020,922
Ensembl chr 4:123,993,666...124,021,010
JBrowse link
xeroderma pigmentosum group B term browser
Symbol Object Name Qualifiers 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 term: Xeroderma pigmentosum, complementation group b
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:610651
OMIM
ClinVar
PMID:2167179 PMID:4811796 PMID:8304337 PMID:8408834 PMID:8663148 More... NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329
JBrowse link
xeroderma pigmentosum group C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group C
ClinVar Annotator: match by term: Xeroderma pigmentosum, complementation group c
ClinVar PMID:18414213 PMID:19434073 PMID:21047201 PMID:22992668 PMID:23400628 More... NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825
JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group C
ClinVar Annotator: match by term: Xeroderma pigmentosum, complementation group c
ClinVar Annotator: match by OMIM:278720
OMIM
ClinVar
PMID:8298653 PMID:9804340 PMID:10766188 PMID:11511294 PMID:12177305 More... NCBI chr 4:123,993,670...124,020,922
Ensembl chr 4:123,993,666...124,021,010
JBrowse link
xeroderma pigmentosum group D term browser
Symbol Object Name Qualifiers 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 chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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
ClinVar Annotator: match by OMIM:278730
OMIM
ClinVar
PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9101292 More... NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
JBrowse link
G Klc3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group D ClinVar NCBI chr 1:79,045,842...79,055,809
Ensembl chr 1:79,045,844...79,055,416
JBrowse link
xeroderma pigmentosum group E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddb2 damage specific DNA binding protein 2 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group E
ClinVar Annotator: match by term: Xeroderma pigmentosum, complementation group E
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:278740
OMIM
ClinVar
CTD
PMID:10469312 PMID:10585395 PMID:12812979 PMID:21107348 PMID:24728327 More... NCBI chr 3:77,185,114...77,207,650
Ensembl chr 3:77,185,109...77,207,631
JBrowse link
xeroderma pigmentosum group F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F
ClinVar Annotator: match by term: Xeroderma pigmentosum, type f/Cockayne syndrome
ClinVar Annotator: match by term: XERODERMA PIGMENTOSUM, TYPE F
ClinVar Annotator: match by OMIM:278760
ClinVar Annotator: match by term: XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME
OMIM
ClinVar
PMID:8797827 PMID:9485007 PMID:9536098 PMID:9579555 PMID:9580660 More... NCBI chr10:2,416,259...2,448,364 JBrowse link
xeroderma pigmentosum group G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group G
ClinVar Annotator: match by OMIM:278780
OMIM
ClinVar
PMID:492197 PMID:698095 PMID:7951246 PMID:9096355 PMID:10026181 More... NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
JBrowse link
xeroderma pigmentosum variant type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polh DNA polymerase eta ISO ClinVar Annotator: match by term: Xeroderma pigmentosum variant type
ClinVar Annotator: match by term: Xeroderma pigmentosum, variant type
ClinVar Annotator: match by OMIM:278750
OMIM
ClinVar
PMID:10385124 PMID:10398605 PMID:10871396 PMID:11121129 PMID:17344931 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:10385124 PMID:10398605 PMID:10871396 PMID:11121129 PMID:17344931 More... NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
JBrowse link
XFE progeroid syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISS OMIM:610965 MouseDO NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: XFE progeroid syndrome
ClinVar Annotator: match by OMIM:610965
OMIM
ClinVar
PMID:8797827 PMID:9579555 PMID:15886521 PMID:17183314 PMID:20221251 More... NCBI chr10:2,416,259...2,448,364 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      xeroderma pigmentosum 19
        De Sanctis-Cacchione syndrome 1
        XFE progeroid syndrome 2
        Xeroderma Pigmentosum, Autosomal Dominant, Mild 0
        Xeroderma Pigmentosum, Type 9 0
        photosensitive trichothiodystrophy 1 3
        xeroderma pigmentosum group A 2
        xeroderma pigmentosum group B + 1
        xeroderma pigmentosum group C 2
        xeroderma pigmentosum group D 3
        xeroderma pigmentosum group E 1
        xeroderma pigmentosum group F 1
        xeroderma pigmentosum group G + 1
        xeroderma pigmentosum variant type 2
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        genetic disease 8962
          monogenic disease 7129
            autosomal genetic disease 6277
              autosomal recessive disease 3443
                xeroderma pigmentosum 19
                  De Sanctis-Cacchione syndrome 1
                  XFE progeroid syndrome 2
                  Xeroderma Pigmentosum, Autosomal Dominant, Mild 0
                  Xeroderma Pigmentosum, Type 9 0
                  photosensitive trichothiodystrophy 1 3
                  xeroderma pigmentosum group A 2
                  xeroderma pigmentosum group B + 1
                  xeroderma pigmentosum group C 2
                  xeroderma pigmentosum group D 3
                  xeroderma pigmentosum group E 1
                  xeroderma pigmentosum group F 1
                  xeroderma pigmentosum group G + 1
                  xeroderma pigmentosum variant type 2
paths to the root