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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
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 chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388
JBrowse link
G Eln elastin ISO protein:decreased expression:skin: RGD PMID:18753059 RGD:9585765 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
JBrowse link
Actinic Prurigo term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:Polymorphism: :HLA-DRB1*14(human) RGD PMID:11369906 RGD:7365088 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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
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: Kindler's syndrome
ClinVar Annotator: match by term: Kindler syndrome
ClinVar
OMIM
PMID:12668616 PMID:12789646 PMID:14507403 PMID:14962093 PMID:15313809 More... NCBI chr 3:120,171,301...120,213,555
Ensembl chr 3:120,171,561...120,213,555
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 ISS
ISO
OMIM:601675
ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS
MouseDO
ClinVar
PMID:7585650 PMID:7920640 PMID:8571952 PMID:9195225 PMID:9238033 More... NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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
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
DNA:missense mutation:cds:p.T119P (human)
ClinVar
OMIM
RGD
PMID:9012405 PMID:24728327 PMID:25741868 PMID:28492532 PMID:30414346 More... RGD:13207496 NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329
JBrowse link
photosensitive trichothiodystrophy 3 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, complementation group A ClinVar PMID:7585650 PMID:7920640 PMID:8571952 PMID:9195225 PMID:9238033 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 ClinVar Annotator: match by term: Trichothiodystrophy 3, photosensitive
ClinVar Annotator: match by term: Trichothiodystrophy, complementation group a
OMIM
ClinVar
PMID:15220921 PMID:24986372 PMID:25741868 PMID:30359777 NCBI chr 1:46,656,804...46,663,512
Ensembl chr 1:46,656,859...46,664,939
JBrowse link
Sunburn term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eln elastin ISO mRNA:increased expression:skin: RGD PMID:8040608 RGD:9585745 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17470448 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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 chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO RGD PMID:18200051 RGD:6893371 NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNP: :rs2228570 (human) RGD PMID:19105801 RGD:8158067 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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 synonym: Uv-induced skin damage, susceptibility to ClinVar PMID:16463023 NCBI chr19:51,452,448...51,455,375 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 chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
JBrowse link
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:39,647,393...39,686,229
Ensembl chr 2:39,647,452...39,684,859
JBrowse link
G Uvssa UV-stimulated scaffold protein A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22466610 PMID:22466612 NCBI chr14:77,309,188...77,351,922
Ensembl chr14:77,314,056...77,351,903
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 ISO ClinVar Annotator: match by term: UV-sensitive syndrome 1
ClinVar Annotator: match by term: UV-SENSITIVE SYNDROME 1
OMIM
ClinVar
PMID:7264357 PMID:9443879 PMID:9777763 PMID:10767341 PMID:15486090 More... NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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
ClinVar Annotator: match by OMIM:614621
OMIM
ClinVar
PMID:18414213 PMID:19329487 PMID:25741868 PMID:28492532 NCBI chr 2:39,647,393...39,686,229
Ensembl chr 2:39,647,452...39,684,859
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 OMIM:614640
ClinVar Annotator: match by term: UV-sensitive syndrome 3
OMIM
ClinVar
PMID:3774595 PMID:3974603 PMID:7513056 PMID:10771487 PMID:19329487 More... NCBI chr14:77,309,188...77,351,922
Ensembl chr14:77,314,056...77,351,903
JBrowse link
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: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: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
RGD
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
RGD
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
RGD
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
RGD
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
RGD
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
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, type F/Cockayne syndrome
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 17289
    sensory system disease 5680
      skin disease 2993
        photosensitivity disease 29
          Actinic Prurigo 1
          Cutaneous Photosensitivity and Colitis, Lethal 0
          Hair Defect with Photosensitivity and Mental Retardation 0
          Hydroa Vacciniforme + 0
          Kindler syndrome 1
          Sunburn 5
          UV-Induced Skin Damage 1
          UV-sensitive syndrome + 3
          photoallergic dermatitis + 0
          photosensitive epilepsy + 0
          photosensitive trichothiodystrophy + 4
          phototoxic dermatitis 0
          xeroderma pigmentosum + 19
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          skin disease 2993
            dermatitis 439
              photosensitivity disease 29
                Actinic Prurigo 1
                Cutaneous Photosensitivity and Colitis, Lethal 0
                Hair Defect with Photosensitivity and Mental Retardation 0
                Hydroa Vacciniforme + 0
                Kindler syndrome 1
                Sunburn 5
                UV-Induced Skin Damage 1
                UV-sensitive syndrome + 3
                photoallergic dermatitis + 0
                photosensitive epilepsy + 0
                photosensitive trichothiodystrophy + 4
                phototoxic dermatitis 0
                xeroderma pigmentosum + 19
paths to the root