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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:photosensitivity disease
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Accession:DOID:3159 term browser browse the term
Definition:Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy.
Synonyms:exact_synonym: Actinic Dermatitides;   Actinic Dermatitis;   Actinic Reticuloid Syndrome;   Actinic Reticuloid Syndromes;   Chronic Actinic Dermatitides;   Chronic Actinic Dermatitis;   Photodermatitides;   Photodermatitis;   Photosensitivity Disorder;   Photosensitivity Disorders;   Photosensitization
 primary_id: MESH:D010787;   RDO:0001713
 xref: EFO:1000752
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
photosensitivity disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRD2 bromodomain containing 2 susceptibility ISO DNA:SNPs,haplotype: : RGD PMID:16516380 RGD:9586343 NCBI chr 6:32,538,130...32,550,823
Ensembl chr 6:33,657,648...33,666,031 		JBrowse link
G ELN elastin ISO protein:decreased expression:skin: RGD PMID:18753059 RGD:9585765
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 susceptibility ISO ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME ClinVar
OMIM		 PMID:887325 PMID:1339317 PMID:7063265 PMID:9150142 PMID:9443879 More... NCBI chr10:44,703,720...44,784,948 JBrowse link
Kindler syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FERMT1 FERM domain containing kindlin 1 ISO ClinVar Annotator: match by term: FERMT1-related condition | ClinVar Annotator: match by term: Kindler syndrome OMIM
ClinVar		 PMID:12668616 PMID:12789646 PMID:14507403 PMID:14962093 PMID:15313809 More... NCBI chr20:6,063,480...6,120,206
Ensembl chr20:5,856,287...5,902,251 		JBrowse link
photosensitive trichothiodystrophy 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 WITH CONGENITAL ICHTHYOSIS ClinVar PMID:7585650 PMID:7920640 PMID:8571952 PMID:9195225 PMID:9238033 More... NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819 		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 OMIM
ClinVar		 PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9195225 More... NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819 		JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr 7:44,100,768...44,102,786
Ensembl chr 7:44,139,855...44,141,991 		JBrowse link
photosensitive trichothiodystrophy 2 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: Trichothiodystrophy 2, photosensitive OMIM
ClinVar		 PMID:9012405 PMID:16947863 PMID:24728327 PMID:25741868 PMID:26556299 More... NCBI chr2B:32,983,492...33,020,492
Ensembl chr2B:127,922,483...127,959,372 		JBrowse link
photosensitive trichothiodystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GTF2H5 general transcription factor IIH subunit 5 ISO ClinVar Annotator: match by term: Trichothiodystrophy 3, photosensitive OMIM
ClinVar		 PMID:15220921 PMID:24986372 PMID:25620205 PMID:25741868 PMID:28492532 More... Ensembl chr 6:158,126,665...158,153,663 JBrowse link
Sunburn term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHCY adenosylhomocysteinase ISO ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR ClinVar PMID:11833005 PMID:18488028 NCBI chr20:30,603,701...30,626,835
Ensembl chr20:31,738,007...31,760,803 		JBrowse link
G ASIP agouti signaling protein ISO ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR ClinVar
OMIM		 PMID:11833005 PMID:18488028 NCBI chr20:30,583,038...30,592,726
Ensembl chr20:31,718,169...31,727,217 		JBrowse link
G ELN elastin ISO mRNA:increased expression:skin: RGD PMID:8040608 RGD:9585745
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17470448 NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819 		JBrowse link
G MMP9 matrix metallopeptidase 9 susceptibility ISO associated with skin melanoma;DNA:missense mutations:cds:p.Q279R, p.R668Q (human) RGD PMID:17346338 RGD:8547886 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO RGD PMID:18200051 RGD:6893371 NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085 		JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:SNP: :rs2228570 (human) RGD PMID:19105801 RGD:8158067 NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192 		JBrowse link
UV-Induced Skin Damage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MC1R melanocortin 1 receptor ISO ClinVar Annotator: match by term: UV-induced skin damage, susceptibility to ClinVar PMID:16463023 PMID:28492532 NCBI chr16:70,676,447...70,697,636 JBrowse link
UV-sensitive 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 CTD PMID:26972010 NCBI chr10:44,703,720...44,784,948 JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:53,053,712...53,131,563
Ensembl chr 5:54,693,987...54,765,496 		JBrowse link
G UVSSA UV stimulated scaffold protein A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22466610 PMID:22466612 NCBI chr 4:1,492,716...1,532,114
Ensembl chr 4:1,373,562...1,413,982 		JBrowse link
UV-Sensitive Syndrome 1 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 susceptibility ISO ClinVar Annotator: match by term: UV-SENSITIVE SYNDROME 1 | ClinVar Annotator: match by term: UV-sensitive syndrome 1 ClinVar
OMIM		 PMID:7264357 PMID:9443879 PMID:9777763 PMID:10196384 PMID:10767341 More... NCBI chr10:44,703,720...44,784,948 JBrowse link
UV-Sensitive Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO ClinVar Annotator: match by term: UV-sensitive syndrome 2 OMIM
ClinVar		 PMID:18414213 PMID:19329487 PMID:25741868 PMID:28492532 NCBI chr 5:53,053,712...53,131,563
Ensembl chr 5:54,693,987...54,765,496 		JBrowse link
UV-Sensitive Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UVSSA UV stimulated scaffold protein A ISO ClinVar Annotator: match by term: UV-sensitive syndrome 3 OMIM
ClinVar		 PMID:3774595 PMID:3974603 PMID:7513056 PMID:10771487 PMID:19329487 More... NCBI chr 4:1,492,716...1,532,114
Ensembl chr 4:1,373,562...1,413,982 		JBrowse link
xeroderma pigmentosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDB2 damage specific DNA binding protein 2 susceptibility ISO DNA:transitions: :p.K244E, p.R273H
ClinVar Annotator: match by term: Xeroderma pigmentosum		 RGD
ClinVar		 PMID:8798680 PMID:24728327 PMID:25741868 PMID:26580448 PMID:28492532 RGD:1601050 NCBI chr11:47,161,345...47,185,526
Ensembl chr11:47,714,723...47,738,761 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:3341805 PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 More... NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819 		JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:8304337 PMID:9536098 PMID:16199547 PMID:16550608 PMID:16947863 More... NCBI chr2B:32,983,492...33,020,492
Ensembl chr2B:127,922,483...127,959,372 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:8797827 PMID:9485007 PMID:9579555 PMID:9580660 PMID:15159313 More... NCBI chr16:12,848,334...12,880,480
Ensembl chr16:14,272,417...14,304,496 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:2478446 PMID:7951246 PMID:8317483 PMID:9096355 PMID:11841555 More... NCBI chr13:84,005,950...84,036,710
Ensembl chr13:103,096,344...103,174,182 		JBrowse link
G KLC3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar NCBI chr19:42,293,515...42,300,592
Ensembl chr19:50,887,900...50,898,689 		JBrowse link
G POLH DNA polymerase eta ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:10398605 PMID:10871396 PMID:11121129 PMID:11773631 PMID:17344931 More... NCBI chr 6:43,168,195...43,205,811
Ensembl chr 6:44,462,225...44,495,704 		JBrowse link
G POLR1C RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:10398605 PMID:10871396 PMID:11121129 PMID:11773631 PMID:17344931 More... NCBI chr 6:43,101,771...43,121,460
Ensembl chr 6:44,395,787...44,412,257 		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 3:14,043,369...14,062,064
Ensembl chr 3:14,383,983...14,400,587 		JBrowse link
G XPA XPA, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:1352672 PMID:1372102 PMID:1372103 PMID:1601884 PMID:1702221 More... NCBI chr 9:68,726,723...68,788,049
Ensembl chr 9:96,886,795...96,909,254 		JBrowse link
G XPC XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:8298653 PMID:9804340 PMID:10766188 PMID:11511294 PMID:15654957 More... NCBI chr 3:14,063,499...14,097,023
Ensembl chr 3:14,403,958...14,437,377 		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: Xeroderma pigmentosum group A OMIM
ClinVar		 PMID:1339397 PMID:1352672 PMID:1372102 PMID:1372103 PMID:1601884 More... NCBI chr 9:68,726,723...68,788,049
Ensembl chr 9:96,886,795...96,909,254 		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 3:14,063,499...14,097,023
Ensembl chr 3:14,403,958...14,437,377 		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 group B OMIM
ClinVar		 PMID:2167179 PMID:4811796 PMID:8304337 PMID:8408834 PMID:8663148 More... NCBI chr2B:32,983,492...33,020,492
Ensembl chr2B:127,922,483...127,959,372 		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 PMID:18414213 PMID:23400628 PMID:25741868 PMID:28492532 NCBI chr 3:14,043,369...14,062,064
Ensembl chr 3:14,383,983...14,400,587 		JBrowse link
G XPC XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group C OMIM
ClinVar		 PMID:8298653 PMID:9536098 PMID:9804340 PMID:10766188 PMID:11511294 More... NCBI chr 3:14,063,499...14,097,023
Ensembl chr 3:14,403,958...14,437,377 		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 chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430 		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 OMIM
ClinVar		 PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9101292 More... NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819 		JBrowse link
G KLC3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group D ClinVar PMID:25741868 NCBI chr19:42,293,515...42,300,592
Ensembl chr19:50,887,900...50,898,689 		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 chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779 		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 OMIM
ClinVar		 PMID:8798680 PMID:10469312 PMID:10585395 PMID:10777490 PMID:12812979 More... NCBI chr11:47,161,345...47,185,526
Ensembl chr11:47,714,723...47,738,761 		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 OMIM
ClinVar		 PMID:8797827 PMID:9485007 PMID:9536098 PMID:9579555 PMID:9580660 More... NCBI chr16:12,848,334...12,880,480
Ensembl chr16:14,272,417...14,304,496 		JBrowse link
G MRTFB myocardin related transcription factor B ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chr16:12,999,165...13,195,012
Ensembl chr16:14,493,351...14,613,860 		JBrowse link
G PARN poly(A)-specific ribonuclease ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chr16:13,363,879...13,556,054
Ensembl chr16:14,787,881...14,977,786 		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 OMIM
ClinVar		 PMID:492197 PMID:698095 PMID:7951246 PMID:9096355 PMID:10026181 More... NCBI chr13:84,005,950...84,036,710
Ensembl chr13:103,096,344...103,174,182 		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 OMIM
ClinVar		 PMID:9536098 PMID:10385124 PMID:10398605 PMID:10871396 PMID:11121129 More... NCBI chr 6:43,168,195...43,205,811
Ensembl chr 6:44,462,225...44,495,704 		JBrowse link
G POLR1C RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Xeroderma pigmentosum variant type ClinVar PMID:9536098 PMID:10385124 PMID:10398605 PMID:10871396 PMID:11121129 More... NCBI chr 6:43,101,771...43,121,460
Ensembl chr 6:44,395,787...44,412,257 		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 ISO OMIM:610965 MouseDO NCBI chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: XFE progeroid syndrome OMIM
ClinVar		 PMID:8797827 PMID:9485007 PMID:9579555 PMID:15159313 PMID:15886521 More... NCBI chr16:12,848,334...12,880,480
Ensembl chr16:14,272,417...14,304,496 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    sensory system disease 6626
      skin disease 3772
        photosensitivity disease 29
          Actinic Prurigo 0
          Cutaneous Photosensitivity and Colitis, Lethal 0
          Hair Defect with Photosensitivity and Mental Retardation 0
          Hydroa Vacciniforme + 0
          Kindler syndrome 1
          Sunburn 7
          UV-Induced Skin Damage 1
          UV-sensitive syndrome + 3
          photoallergic dermatitis + 0
          photosensitive epilepsy + 0
          photosensitive trichothiodystrophy + 4
          phototoxic dermatitis 0
          xeroderma pigmentosum + 17
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        Neurologic Manifestations 9644
          sensory system disease 6626
            skin disease 3772
              dermatitis 472
                photosensitivity disease 29
                  Actinic Prurigo 0
                  Cutaneous Photosensitivity and Colitis, Lethal 0
                  Hair Defect with Photosensitivity and Mental Retardation 0
                  Hydroa Vacciniforme + 0
                  Kindler syndrome 1
                  Sunburn 7
                  UV-Induced Skin Damage 1
                  UV-sensitive syndrome + 3
                  photoallergic dermatitis + 0
                  photosensitive epilepsy + 0
                  photosensitive trichothiodystrophy + 4
                  phototoxic dermatitis 0
                  xeroderma pigmentosum + 17
paths to the root