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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:Cockayne syndrome
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Accession:DOID:2962 term browser browse the term
Definition:A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. (DO)
Synonyms:exact_synonym: Cockayne's syndrome;   Dwarfism-Retinal Atrophy-Deafness Syndrome;   Neill-Dingwall syndrome;   Progeria Like Syndrome;   Progeria-Like Syndromes;   progeroid nanism
 narrow_synonym: Cockayne Syndrome Type C;   Cockayne syndrome type 3;   Cockayne syndrome type III;   Group C Cockayne Syndrome;   XERODERMA PIGMENTOSUM AND COCKAYNE SYNDROME COMPLEX;   XERODERMA PIGMENTOSUM GROUP G/COCKAYNE SYNDROME;   XP7 XERODERMA PIGMENTOSUM, TYPE G/COCKAYNE SYNDROME;   XPG-CS;   XPG/CS;   Xeroderma Pigmentosum B / Cockayne Syndrome;   Xeroderma Pigmentosum G / Cockayne Syndrome;   xeroderma pigmentosum, type G / Cockayne syndrome
 primary_id: MESH:C566879;   MESH:C567061;   MESH:D003057
 alt_id: DOID:9004588;   DOID:9006765
 xref: EFO:0000359;   GARD:6122;   ICD10CM:Q87.1;   MONDO:0008998;   MONDO:0016006;   NCI:C9460;   ORDO:191;   ORDO:90321;   ORDO:90322;   ORDO:90324
For additional species annotation, visit the Alliance of Genome Resources.


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Cockayne 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 ClinVar Annotator: match by term: Cockayne syndrome ClinVar PMID:17273966 PMID:23623389 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 associated with Xeroderma Pigmentosum;DNA:missense mutation: :p.G602D (mouse) RGD PMID:16904611 RGD:10401080 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 B/COCKAYNE SYNDROME ClinVar
RGD		 PMID:16947863 PMID:24728327 PMID:25741868 PMID:26023681 PMID:27004399 More... RGD:10401087 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 ClinVar Annotator: match by term: Progeroid nanism ClinVar PMID:8797827 PMID:9485007 PMID:9579555 PMID:9580660 PMID:15159313 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 Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Xeroderma pigmentosum and Cockayne syndrome complex | ClinVar Annotator: match by term: Xeroderma pigmentosum group G/Cockayne syndrome ClinVar
RGD		 PMID:2478446 PMID:8317483 PMID:9096355 PMID:11228268 PMID:25741868 More... RGD:10401090 NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO
ISS		 DNA:insertion: :c.1034_1035insT (human)
DNA:splice-site mutation, deletion:exon, intron:c.1293_1320del, c.2709 + 1G>T (human)
DNA:missense mutations:exon:p.D532G (c.1595A>G), p.L536W (c.1607T>G) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cockayne syndrome | ClinVar Annotator: match by term: Progeroid nanism		 CTD
MouseDO
ClinVar
RGD		 PMID:7264357 PMID:9443879 PMID:9777763 PMID:10739753 PMID:10767341 More... RGD:10401095, RGD:10401100, RGD:11567232 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
ISS		 DNA:nonsense mutation: :p.Y322X (human)
DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cockayne syndrome | ClinVar Annotator: match by term: Progeroid nanism		 MouseDO
CTD
ClinVar
RGD		 PMID:7664335 PMID:9338586 PMID:9536098 PMID:14661080 PMID:15744458 More... RGD:7246919, RGD:10401108, RGD:11064547 NCBI chr 2:39,647,393...39,686,229
Ensembl chr 2:39,647,452...39,684,859 		JBrowse link
G Ghr growth hormone receptor ISO RGD PMID:17326724 RGD:10003139 NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:17326724 RGD:10003139 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Cockayne syndrome | ClinVar Annotator: match by term: Progeroid nanism ClinVar PMID:14661080 PMID:15744458 PMID:19329487 PMID:19894250 PMID:24033266 More... NCBI chr 2:39,535,680...39,647,378
Ensembl chr 2:39,535,689...39,647,316 		JBrowse link
G Xpa XPA, DNA damage recognition and repair factor ISO RGD PMID:19114557 RGD:10401087 NCBI chr 5:60,431,673...60,475,726
Ensembl chr 5:60,431,673...60,475,726 		JBrowse link
cerebrooculofacioskeletal 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: COFS syndrome | ClinVar Annotator: match by term: Cerebrooculofacioskeletal Syndrome ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587 		JBrowse link
cerebrooculofacioskeletal syndrome 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: Cerebrooculofacioskeletal syndrome 1 ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor susceptibility ISO DNA:point mutation: :c.3862C>T (human)
ClinVar Annotator: match by term: CEREBROOCULOFACIOSKELETAL SYNDROME 1 | ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1 | ClinVar Annotator: match by term: PENA-SHOKEIR SYNDROME, TYPE II
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation		 OMIM
ClinVar
CTD
RGD		 PMID:887325 PMID:1339317 PMID:7063265 PMID:9150142 PMID:9443879 More... RGD:10401092, RGD:10401101 NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587 		JBrowse link
cerebrooculofacioskeletal syndrome 2 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 DNA:missense mutations:p.R616W, p.D681N (human)
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:3341805 PMID:7585650 PMID:7825573 PMID:7920640 PMID:8571952 More... RGD:1601070 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: Cerebrooculofacioskeletal syndrome 2 ClinVar PMID:25741868 NCBI chr 1:79,045,842...79,055,809
Ensembl chr 1:79,045,844...79,055,416 		JBrowse link
cerebrooculofacioskeletal syndrome 3 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: Cerebrooculofacioskeletal syndrome 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8818951 PMID:9096355 PMID:9536098 PMID:11443545 PMID:17466625 More... NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472 		JBrowse link
cerebrooculofacioskeletal syndrome 4 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4		 OMIM
CTD
ClinVar		 PMID:17273966 PMID:23623389 PMID:25741868 PMID:28492532 PMID:33116287 More... NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G Polr1g RNA polymerase I subunit G ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 ClinVar PMID:25741868 PMID:28492532 PMID:33116287 NCBI chr 1:79,007,490...79,010,766
Ensembl chr 1:79,007,490...79,010,766 		JBrowse link
Cockayne syndrome A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Depdc1b DEP domain containing 1B ISO ClinVar Annotator: match by term: Cockayne syndrome type 1 ClinVar NCBI chr 2:39,891,163...39,963,779
Ensembl chr 2:39,891,481...39,963,779 		JBrowse link
G Elovl7 ELOVL fatty acid elongase 7 ISO ClinVar Annotator: match by term: Cockayne syndrome type 1 ClinVar NCBI chr 2:39,789,229...39,858,579
Ensembl chr 2:39,789,250...39,856,845 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: Cockayne syndrome type I ClinVar PMID:18628313 PMID:25741868 PMID:27004399 PMID:28492532 PMID:29572252 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 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Cockayne syndrome type 1 | ClinVar Annotator: match by term: Cockayne syndrome type 1 | ClinVar Annotator: match by term: Cockayne syndrome type A | ClinVar Annotator: match by term: ERCC8-related condition		 ClinVar
OMIM
RGD		 PMID:7664335 PMID:9338586 PMID:9536098 PMID:14661080 PMID:15744458 More... RGD:10401106 NCBI chr 2:39,647,393...39,686,229
Ensembl chr 2:39,647,452...39,684,859 		JBrowse link
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Cockayne syndrome type 1 | ClinVar Annotator: match by term: Cockayne syndrome type 1 | ClinVar Annotator: match by term: Cockayne syndrome type A ClinVar PMID:14661080 PMID:15744458 PMID:18180188 PMID:19329487 PMID:19384974 More... NCBI chr 2:39,535,680...39,647,378
Ensembl chr 2:39,535,689...39,647,316 		JBrowse link
Cockayne syndrome B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap22 Rho GTPase activating protein 22 ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chr16:8,473,806...8,631,552
Ensembl chr16:8,476,306...8,631,548 		JBrowse link
G Asah2 N-acylsphingosine amidohydrolase 2 ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:229,865,662...229,973,253
Ensembl chr 1:229,865,662...229,939,162 		JBrowse link
G C16h10orf53 similar to human chromosome 10 open reading frame 53 ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chr16:7,634,207...7,644,876
Ensembl chr16:7,634,207...7,644,876 		JBrowse link
G C16h10orf71 similar to human chromosome 10 open reading frame 71 ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chr16:7,910,597...7,961,900
Ensembl chr16:7,910,433...7,961,958 		JBrowse link
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093 		JBrowse link
G Drgx dorsal root ganglia homeobox ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chr16:7,854,849...7,884,404
Ensembl chr16:7,854,849...7,900,600 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor susceptibility IMP
ISO		 ClinVar Annotator: match by term: Cockayne Syndrome, Type II | ClinVar Annotator: match by term: Cockayne syndrome B OMIM
ClinVar
RGD		 PMID:887325 PMID:1339317 PMID:7063265 PMID:7264357 PMID:9150142 More... RGD:126925983 NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587 		JBrowse link
G Ercc6em1Cgen ERCC excision repair 6, chromatin remodeling factor; CRISPR/Cas9 induced mutant 1, Cgen IMP RGD PMID:31644904 RGD:126925983
G Fam170b family with sequence similarity 170, member B ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chr16:8,101,914...8,104,724
Ensembl chr16:8,101,914...8,104,705 		JBrowse link
G Frmpd2 FERM and PDZ domain containing 2 ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chr16:8,757,642...8,877,307
Ensembl chr16:8,757,705...8,877,303 		JBrowse link
G Lrrc18 leucine rich repeat containing 18 ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chr16:8,253,524...8,277,141
Ensembl chr16:8,254,352...8,277,437 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981 		JBrowse link
G Msmb microseminoprotein, beta ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chr16:7,366,536...7,387,124
Ensembl chr16:7,366,536...7,387,123 		JBrowse link
G Ncoa4 nuclear receptor coactivator 4 ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chr16:7,389,222...7,409,564
Ensembl chr16:7,366,542...7,409,641
Ensembl chr16:7,366,542...7,409,641 		JBrowse link
G Ogdhl oxoglutarate dehydrogenase L ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chr16:7,578,343...7,604,385
Ensembl chr16:7,578,367...7,604,386 		JBrowse link
G Parg poly (ADP-ribose) glycohydrolase ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chr16:7,436,429...7,544,276
Ensembl chr16:7,436,476...7,544,273 		JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:229,996,673...230,259,591
Ensembl chr 1:229,998,119...230,259,603 		JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chr16:7,713,630...7,716,491 JBrowse link
G Timm23 translocase of inner mitochondrial membrane 23 ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chr16:7,410,308...7,436,392
Ensembl chr16:7,409,688...7,436,379
Ensembl chr 3:7,409,688...7,436,379
Ensembl chr 6:7,409,688...7,436,379 		JBrowse link
G Tmem273 transmembrane protein 273 ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chr16:8,049,565...8,081,981
Ensembl chr16:8,049,669...8,081,981 		JBrowse link
G Vstm4 V-set and transmembrane domain containing 4 ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chr16:8,120,336...8,200,272
Ensembl chr16:8,120,336...8,200,269 		JBrowse link
G Wdfy4 WDFY family member 4 ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chr16:8,221,853...8,450,494
Ensembl chr16:8,221,719...8,450,491 		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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    syndrome 11278
      Cockayne syndrome 37
        Cockayne syndrome A 5
        Cockayne syndrome B 23
        Forsythe-Wakeling Syndrome 0
        XFE progeroid syndrome 2
        cerebrooculofacioskeletal syndrome + 6
Path 2
Term Annotations click to browse term
  disease 19106
    disease of anatomical entity 18445
      musculoskeletal system disease 8494
        connective tissue disease 5963
          bone disease 4417
            bone development disease 2378
              Dwarfism 875
                Cockayne syndrome 37
                  Cockayne syndrome A 5
                  Cockayne syndrome B 23
                  Forsythe-Wakeling Syndrome 0
                  XFE progeroid syndrome 2
                  cerebrooculofacioskeletal syndrome + 6
paths to the root