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
go back to main search page
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 1:226,657,561...226,683,356
Ensembl chr 1:226,657,561...226,683,347
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 3:80,030,437...80,052,984
Ensembl chr 3:80,030,437...80,052,953
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:11710928, PMID:12820975, PMID:18637129, PMID:22826098, PMID:23221806, PMID:23800062, PMID:24033266, PMID:24252196, PMID:24448499, PMID:25741868, PMID:26556299, PMID:27004399, PMID:29478780, PMID:7849702 RGD:1601068 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:26023681, PMID:27004399, PMID:27153395, PMID:27356891, PMID:27655433, PMID:29478780, PMID:30787465, PMID:16947863, PMID:22824526 RGD:1598912, RGD:7246919 NCBI chr18:25,037,668...25,068,380
Ensembl chr18:25,037,625...25,068,389
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 chr10:2,010,140...2,037,953
Ensembl chr10:2,010,648...2,037,891
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, PMID:22824526 RGD:7246919 NCBI chr 9:50,928,847...50,970,962
Ensembl chr 9:50,925,619...50,970,955
JBrowse link
G Gtpbp2 GTP binding protein 2 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar NCBI chr 9:17,198,957...17,208,456
Ensembl chr 9:17,198,957...17,209,220
JBrowse link
G Klc3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar NCBI chr 1:80,306,074...80,315,886
Ensembl chr 1:80,306,102...80,315,533
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, PMID:25741868 NCBI chr 9:17,163,354...17,198,006
Ensembl chr 9:17,163,354...17,197,132
JBrowse link
G Terf2 telomeric repeat binding factor 2 ISS MouseDO NCBI chr19:39,271,992...39,301,506
Ensembl chr19:39,272,499...39,300,893
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, PMID:25741868, PMID:28448657 NCBI chr 4:123,118,468...123,133,610
Ensembl chr 4:123,118,468...123,133,609
JBrowse link
G Tp53 tumor protein p53 ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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:7876263, PMID:8105686, PMID:8541864, PMID:8765158, PMID:8825598, PMID:9671271, PMID:15214909, PMID:20054342, PMID:20199544, PMID:20534089, PMID:22081045, PMID:24084170, PMID:24135642, PMID:25525159, PMID:25741868, PMID:26743599, PMID:27413738, PMID:27607234, PMID:28492532, PMID:29208038, PMID:31478152, PMID:15118671, PMID:22824526, PMID:2234061 RGD:1331525, RGD:7246919, RGD:1599876 NCBI chr 5:61,749,767...61,793,641
Ensembl chr 5:61,749,767...61,792,928
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:15654957, PMID:16081512, PMID:17079196, PMID:17084680, PMID:18414213, PMID:19434073, PMID:20054342, PMID:21047201, PMID:21482201, PMID:22992668, PMID:23173980, PMID:23278166, PMID:23400628, PMID:24084170, PMID:24218596, PMID:25256075, PMID:25525159, PMID:25566891, PMID:25741868, PMID:26884178, PMID:27387384, PMID:28448657, PMID:28492532, PMID:28615033, PMID:29178624, PMID:30516811, PMID:8298653, PMID:22824526 RGD:1599878, RGD:7246919 NCBI chr 4:123,134,457...123,161,985
Ensembl chr 4:123,134,457...123,161,985
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:1372469, PMID:7063265, PMID:9443879, PMID:10196384, PMID:10767341, PMID:11809892, PMID:18414213, PMID:18628313, PMID:18784753, PMID:19894250, PMID:20122405, PMID:20456449, PMID:21143350, PMID:21228398, PMID:22661500, PMID:22904069, PMID:23311583, PMID:23422418, PMID:23428416, PMID:24154677, PMID:25136123, PMID:25326635, PMID:25356239, PMID:25463447, PMID:25741868, PMID:25820262, PMID:26204423, PMID:26206375, PMID:26218421, PMID:26620705, PMID:26749132, PMID:27004399, PMID:27186691, PMID:27356891, PMID:28170084, PMID:28440418, PMID:28492532, PMID:29203878, PMID:29572252, PMID:29915382, PMID:30311386 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
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:7849702, PMID:7920640, PMID:8571952, PMID:9195225, PMID:9238033, PMID:9758621, PMID:11242112, PMID:11709541, PMID:20944642, PMID:23232694, PMID:24728327, PMID:25620205, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Gtf2h5 general transcription factor IIH subunit 5 ISO RGD PMID:22824526 RGD:7246919 NCBI chr 1:46,978,345...46,985,032
Ensembl chr 1:46,978,458...46,985,032
JBrowse link
G Mplkip M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr17:49,955,060...49,990,982
Ensembl chr17:49,955,060...49,991,059
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 9:50,928,847...50,970,962
Ensembl chr 9:50,925,619...50,970,955
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, PMID:2234061, PMID:7876263, PMID:8105686, PMID:8541864, PMID:8765158, PMID:8825598, PMID:9101292, PMID:9671271, PMID:9753735, PMID:10862089, PMID:12509227, PMID:15214909, PMID:15661657, PMID:16098033, PMID:16491090, PMID:16905156, PMID:18414213, PMID:20054342, PMID:20199544, PMID:20534089, PMID:20574439, PMID:22081045, PMID:22190868, PMID:23194742, PMID:24063568, PMID:24135642, PMID:24704021, PMID:24728327, PMID:25256075, PMID:25326635, PMID:25525159, PMID:25566891, PMID:25741868, PMID:26743599, PMID:27413738, PMID:27607234, PMID:27982466, PMID:28492532, PMID:29208038, PMID:31478152 NCBI chr 5:61,749,767...61,793,641
Ensembl chr 5:61,749,767...61,792,928
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 4:123,134,457...123,161,985
Ensembl chr 4:123,134,457...123,161,985
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, 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
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, PMID:25741868, PMID:28448657 NCBI chr 4:123,118,468...123,133,610
Ensembl chr 4:123,118,468...123,133,609
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, PMID:12509233, PMID:14662655, PMID:16081512, PMID:17079196, PMID:17084680, PMID:17119055, PMID:18414213, PMID:18478970, PMID:18809580, PMID:18955168, PMID:19434073, PMID:19609301, PMID:20054342, PMID:21047201, PMID:21273643, PMID:21482201, PMID:22992668, PMID:23173980, PMID:23278166, PMID:23400628, PMID:23984341, PMID:24218596, PMID:24728327, PMID:25256075, PMID:25326635, PMID:25525159, PMID:25566891, PMID:25741868, PMID:26278556, PMID:26884178, PMID:27153395, PMID:27387384, PMID:27607234, PMID:28448657, PMID:28492532, PMID:28669926, PMID:29178624, PMID:29973595, PMID:30256826, PMID:30306255, PMID:30516811, PMID:30675318, PMID:31319225 NCBI chr 4:123,134,457...123,161,985
Ensembl chr 4:123,134,457...123,161,985
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 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group D
ClinVar Annotator: match by term: XP4 XERODERMA PIGMENTOSUM VIII
ClinVar Annotator: match by OMIM:278730
OMIM
ClinVar
PMID:7585650, PMID:7849702, PMID:7920640, PMID:8571952, PMID:9101292, PMID:9195225, PMID:9238033, PMID:9758621, PMID:11156600, PMID:11285194, PMID:11319176, PMID:11443545, PMID:11709541, PMID:11710928, PMID:12820975, PMID:15494306, PMID:15534626, PMID:16054878, PMID:16111488, PMID:16707649, PMID:17403617, PMID:18191955, PMID:18470933, PMID:18510924, PMID:18510925, PMID:18603627, PMID:18628313, PMID:18637129, PMID:18709642, PMID:19434073, PMID:19470925, PMID:20633800, PMID:22234153, PMID:22826098, PMID:23221806, PMID:23232694, PMID:23276657, PMID:23800062, PMID:24033266, PMID:24252196, PMID:24418926, PMID:24448499, PMID:24728327, PMID:25431422, PMID:25716912, PMID:25741868, PMID:26467025, PMID:26556299, PMID:26884178, PMID:27004399, PMID:27085493, PMID:27504877, PMID:27745642, PMID:28492532, PMID:29169765, PMID:29478780, PMID:30311386 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Klc3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group D ClinVar NCBI chr 1:80,306,074...80,315,886
Ensembl chr 1:80,306,102...80,315,533
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, PMID:24753253, PMID:28492532 NCBI chr 3:80,030,437...80,052,984
Ensembl chr 3:80,030,437...80,052,953
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:9579555, PMID:9580660, PMID:15159313, PMID:15886521, PMID:16550608, PMID:18767034, PMID:20221251, PMID:21612988, PMID:23407396, PMID:23623386, PMID:23623389, PMID:24004570, PMID:24033266, PMID:24412486, PMID:24465539, PMID:24728327, PMID:25741868, PMID:26074087, PMID:26453996, PMID:26884178, PMID:27356891, PMID:27528516, PMID:28292785, PMID:28431612, PMID:28492532, PMID:28678401, PMID:28767289, PMID:28878254, PMID:29105242, PMID:29325523, PMID:29403087, PMID:29892709, PMID:30165384, PMID:30658521 NCBI chr10:2,010,140...2,037,953
Ensembl chr10:2,010,648...2,037,891
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, PMID:11219864, PMID:11841555, PMID:12060391, PMID:15082767, PMID:15682379, PMID:16550608, PMID:17466625, PMID:22821389, PMID:23255472, PMID:23370536, PMID:24033266, PMID:24700531, PMID:24728327, PMID:25741868, PMID:27104957, PMID:28492532, PMID:30311386 NCBI chr 9:50,928,847...50,970,962
Ensembl chr 9:50,925,619...50,970,955
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, PMID:18368133, PMID:18703314, PMID:24033266, PMID:24130121, PMID:25741868, PMID:26884178, PMID:27004399, PMID:28492532 NCBI chr 9:17,163,354...17,198,006
Ensembl chr 9:17,163,354...17,197,132
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 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
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:17183314, PMID:20221251, PMID:21612988, PMID:23623389, PMID:24033266, PMID:24728327, PMID:25741868, PMID:26074087, PMID:27356891, PMID:27528516, PMID:28431612, PMID:28492532, PMID:28678401, PMID:28767289, PMID:29105242, PMID:29403087, PMID:29892709 NCBI chr10:2,010,140...2,037,953
Ensembl chr10:2,010,648...2,037,891
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      xeroderma pigmentosum 18
        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 1
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
                  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 1
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.