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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 syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair. (DO)
Synonyms:exact_synonym: Kaposi disease;   Kaposi's disease;   Kaposis disease
 primary_id: MESH:D014983
 xref: GARD:7910;   NCI:C3452;   ORDO:910


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
RGD		 PMID:24728327 PMID:25741868 PMID:26580448 PMID:28492532 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
RGD		 PMID:3341805 PMID:7585650 PMID:7825573 PMID:7849702 PMID:7920640 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
RGD		 PMID:8304337 PMID:9536098 PMID:16199547 PMID:16550608 PMID:16947863 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
RGD		 PMID:8797827 PMID:9485007 PMID:9579555 PMID:9580660 PMID:15159313 More... RGD:1601093, RGD:7246919 NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369
Ensembl chr10:2,419,038...2,448,369 		JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar
RGD		 PMID:2478446 PMID:7951246 PMID:8317483 PMID:9096355 PMID:11841555 More... RGD:7246919 NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472 		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:10398605 PMID:10871396 PMID:11121129 PMID:11773631 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 ClinVar 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:23400628 PMID:25741868 PMID:28492532 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
RGD		 PMID:1352672 PMID:1372102 PMID:1372103 PMID:1601884 PMID:1702221 More... RGD:1331525, RGD:7246919, RGD:1599876 NCBI chr 5:60,431,673...60,475,726
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
RGD		 PMID:8298653 PMID:9804340 PMID:10766188 PMID:11511294 PMID:15654957 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME		 CTD
ClinVar
OMIM		 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 Cirop ciliated left-right organizer metallopeptidase ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar PMID:25741868 NCBI chr15:28,151,018...28,158,149
Ensembl chr15:28,151,019...28,158,129 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive 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 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
ISS		 ClinVar Annotator: match by term: XPA-related condition | ClinVar Annotator: match by term: Xeroderma pigmentosum group A
OMIM:278700		 OMIM
ClinVar
MouseDO		 PMID:1339397 PMID:1352672 PMID:1372102 PMID:1372103 PMID:1601884 More... NCBI chr 5:60,431,673...60,475,726
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 group A ClinVar PMID:12177305 PMID:17119055 PMID:18414213 PMID:23400628 PMID:24728327 More... 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
ISS		 ClinVar Annotator: match by term: Xeroderma pigmentosum group B
CTD Direct Evidence: marker/mechanism
OMIM:610651		 OMIM
ClinVar
CTD
MouseDO		 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 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group C ClinVar PMID:25741868 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group C ClinVar PMID:18414213 PMID:23400628 PMID:25741868 PMID:28492532 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
ISS		 ClinVar Annotator: match by term: XPC-related condition | ClinVar Annotator: match by term: Xeroderma pigmentosum, group C
OMIM:278720
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8298653 PMID:9536098 PMID:9804340 PMID:10766188 PMID:11511294 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
ISS		 ClinVar Annotator: match by term: XP4 XERODERMA PIGMENTOSUM VIII | ClinVar Annotator: match by term: Xeroderma pigmentosum, group D
OMIM:278730
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 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 PMID:25741868 NCBI chr 1:79,045,842...79,055,809
Ensembl chr 1:79,045,844...79,055,416 		JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: XP4 XERODERMA PIGMENTOSUM VIII ClinVar PMID:25741868 PMID:28492532 PMID:33471991 NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956 		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
ISS		 ClinVar Annotator: match by term: DDB2-related condition | ClinVar Annotator: match by term: Xeroderma pigmentosum, group E
OMIM:278740
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8798680 PMID:10469312 PMID:10585395 PMID:10777490 PMID:12812979 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
ISS		 ClinVar Annotator: match by term: Xeroderma pigmentosum, group F | ClinVar Annotator: match by term: Xeroderma pigmentosum, type F/Cockayne syndrome
OMIM:278760
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8797827 PMID:9485007 PMID:9536098 PMID:9579555 PMID:9580660 More... NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369
Ensembl chr10:2,419,038...2,448,369 		JBrowse link
G Mir193b microRNA 193b ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chr10:1,317,742...1,317,824
Ensembl chr10:1,317,742...1,317,824 		JBrowse link
G Mrtfb myocardin related transcription factor B ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chr10:1,116,315...1,278,106
Ensembl chr10:1,116,310...1,277,897 		JBrowse link
G Parn poly(A)-specific ribonuclease ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chr10:1,410,636...1,548,573
Ensembl chr10:1,410,642...1,548,560 		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
ISS		 ClinVar Annotator: match by term: Xeroderma pigmentosum, group G
OMIM:278780
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 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
ISS		 ClinVar Annotator: match by term: POLH-related condition | ClinVar Annotator: match by term: Xeroderma pigmentosum variant type
OMIM:278750
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:10385124 PMID:10398605 PMID:10871396 PMID:11121129 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:25741868 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8797827 PMID:9485007 PMID:9579555 PMID:15159313 PMID:15886521 More... NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369
Ensembl chr10:2,419,038...2,448,369 		JBrowse link
G Pole DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: XFE progeroid syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    syndrome 11370
      xeroderma pigmentosum 24
        De Sanctis-Cacchione syndrome 1
        XFE progeroid syndrome 3
        Xeroderma Pigmentosum, Autosomal Dominant, Mild 0
        Xeroderma Pigmentosum, Type 9 0
        photosensitive trichothiodystrophy 1 4
        xeroderma pigmentosum group A 2
        xeroderma pigmentosum group B 1
        xeroderma pigmentosum group C 3
        xeroderma pigmentosum group D 4
        xeroderma pigmentosum group E 1
        xeroderma pigmentosum group F 4
        xeroderma pigmentosum group G 1
        xeroderma pigmentosum variant type 2
Path 2
Term Annotations click to browse term
  disease 19134
    Pathological Conditions, Signs and Symptoms 13622
      Signs and Symptoms 11210
        Neurologic Manifestations 10445
          sensory system disease 7373
            skin disease 4319
              dermatitis 529
                photosensitivity disease 36
                  xeroderma pigmentosum 24
                    De Sanctis-Cacchione syndrome 1
                    XFE progeroid syndrome 3
                    Xeroderma Pigmentosum, Autosomal Dominant, Mild 0
                    Xeroderma Pigmentosum, Type 9 0
                    photosensitive trichothiodystrophy 1 4
                    xeroderma pigmentosum group A 2
                    xeroderma pigmentosum group B 1
                    xeroderma pigmentosum group C 3
                    xeroderma pigmentosum group D 4
                    xeroderma pigmentosum group E 1
                    xeroderma pigmentosum group F 4
                    xeroderma pigmentosum group G 1
                    xeroderma pigmentosum variant type 2
paths to the root