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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.

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
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 chrNW_004624907:2,288,380...2,298,909
Ensembl chrNW_004624907:2,288,423...2,298,373 		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 chrNW_004624907:2,249,323...2,263,999
Ensembl chrNW_004624907:2,250,133...2,263,947 		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 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chrNW_004624732:13,730,648...13,776,886
Ensembl chrNW_004624732:13,729,947...13,776,870 		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:15159313 PMID:15886521 More... NCBI chrNW_004624782:4,508,758...4,537,751
Ensembl chrNW_004624782:4,512,650...4,537,701 		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 PMID:2478446 PMID:8317483 PMID:9096355 PMID:11228268 PMID:25741868 More... NCBI chrNW_004624793:8,632,581...8,657,514
Ensembl chrNW_004624793:8,632,471...8,657,346 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: Cockayne syndrome | ClinVar Annotator: match by term: Progeroid nanism ClinVar PMID:7264357 PMID:9443879 PMID:9777763 PMID:15486090 PMID:16199547 More... NCBI chrNW_004624928:458,651...532,201
Ensembl chrNW_004624928:463,279...530,115 		JBrowse link
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO ClinVar Annotator: match by term: Cockayne syndrome | ClinVar Annotator: match by term: Progeroid nanism ClinVar PMID:7664335 PMID:9338586 PMID:9536098 PMID:14661080 PMID:15744458 More... NCBI chrNW_004624815:9,054,576...9,135,136
Ensembl chrNW_004624815:9,054,651...9,134,286 		JBrowse link
G Ghr growth hormone receptor ISO RGD PMID:17326724 RGD:10003139 NCBI chrNW_004624759:12,282,295...12,570,106
Ensembl chrNW_004624759:12,285,594...12,570,906 		JBrowse link
G Igf1 insulin like growth factor 1 ISO RGD PMID:17326724 RGD:10003139 NCBI chrNW_004624750:5,881,065...5,954,799
Ensembl chrNW_004624750:5,881,091...5,952,300 		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 chrNW_004624815:8,862,725...9,054,539
Ensembl chrNW_004624815:8,863,827...9,054,453 		JBrowse link
G Xpa XPA, DNA damage recognition and repair factor ISO RGD PMID:19114557 RGD:10401087 NCBI chrNW_004624825:3,138,386...3,162,774
Ensembl chrNW_004624825:3,137,823...3,162,294 		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 chrNW_004624928:458,651...532,201
Ensembl chrNW_004624928:463,279...530,115 		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 chrNW_004624907:2,249,323...2,263,999
Ensembl chrNW_004624907:2,250,133...2,263,947 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor susceptibility ISO 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 OMIM
ClinVar		 PMID:887325 PMID:1339317 PMID:7063265 PMID:9150142 PMID:9443879 More... NCBI chrNW_004624928:458,651...532,201
Ensembl chrNW_004624928:463,279...530,115 		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 ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2 OMIM
ClinVar		 PMID:3341805 PMID:7585650 PMID:7825573 PMID:7920640 PMID:8571952 More... NCBI chrNW_004624907:2,249,323...2,263,999
Ensembl chrNW_004624907:2,250,133...2,263,947 		JBrowse link
G Klc3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2 ClinVar PMID:25741868 NCBI chrNW_004624907:2,242,149...2,250,533
Ensembl chrNW_004624907:2,245,731...2,250,378 		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 OMIM
ClinVar		 PMID:8818951 PMID:9096355 PMID:9536098 PMID:11443545 PMID:17466625 More... NCBI chrNW_004624793:8,632,581...8,657,514
Ensembl chrNW_004624793:8,632,471...8,657,346 		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 ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 OMIM
ClinVar		 PMID:17273966 PMID:23623389 PMID:25741868 PMID:28492532 PMID:33116287 More... NCBI chrNW_004624907:2,288,380...2,298,909
Ensembl chrNW_004624907:2,288,423...2,298,373 		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 chrNW_004624907:2,286,040...2,288,533
Ensembl chrNW_004624907:2,286,050...2,288,242 		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 chrNW_004624815:9,289,221...9,372,580
Ensembl chrNW_004624815:9,289,292...9,371,716 		JBrowse link
G Elovl7 ELOVL fatty acid elongase 7 ISO ClinVar Annotator: match by term: Cockayne syndrome type 1 ClinVar NCBI chrNW_004624815:9,154,070...9,247,251
Ensembl chrNW_004624815:9,190,454...9,247,746 		JBrowse link
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO ClinVar Annotator: match by term: Cockayne syndrome type 1 | ClinVar Annotator: match by term: Cockayne syndrome type 1 | ClinVar Annotator: match by term: ERCC8-related condition OMIM
ClinVar		 PMID:7664335 PMID:9338586 PMID:9536098 PMID:14661080 PMID:15744458 More... NCBI chrNW_004624815:9,054,576...9,135,136
Ensembl chrNW_004624815:9,054,651...9,134,286 		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 PMID:14661080 PMID:15744458 PMID:18180188 PMID:19329487 PMID:19384974 More... NCBI chrNW_004624815:8,862,725...9,054,539
Ensembl chrNW_004624815:8,863,827...9,054,453 		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 chrNW_004624928:1,265,592...1,433,947 JBrowse link
G Asah2 N-acylsphingosine amidohydrolase 2 ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624791:12,906,908...13,059,033
Ensembl chrNW_004624791:12,907,485...13,059,005 		JBrowse link
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624928:357,812...401,668
Ensembl chrNW_004624928:360,704...399,714 		JBrowse link
G CUNH10orf53 chromosome unknown C10orf53 homolog ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624928:285,288...350,511
Ensembl chrNW_004624928:309,959...350,471 		JBrowse link
G CUNH10orf71 chromosome unknown C10orf71 homolog ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624928:614,036...636,557
Ensembl chrNW_004624928:614,610...618,845 		JBrowse link
G Drgx dorsal root ganglia homeobox ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624928:566,405...592,561
Ensembl chrNW_004624928:566,793...592,507 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor susceptibility ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II | ClinVar Annotator: match by term: Cockayne syndrome B ClinVar
OMIM		 PMID:887325 PMID:1339317 PMID:7063265 PMID:7264357 PMID:9150142 More... NCBI chrNW_004624928:458,651...532,201
Ensembl chrNW_004624928:463,279...530,115 		JBrowse link
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 chrNW_004624928:821,167...823,610 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 chrNW_004624928:980,324...1,004,150
Ensembl chrNW_004624928:980,389...1,004,137 		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 chrNW_004624928:1,442,216...1,494,275
Ensembl chrNW_004624928:1,439,146...1,494,266 		JBrowse link
G Ncoa4 nuclear receptor coactivator 4 ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624928:6,298...32,051
Ensembl chrNW_004624928:18,148...30,594 		JBrowse link
G Ogdhl oxoglutarate dehydrogenase L ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624928:250,483...271,633
Ensembl chrNW_004624928:251,907...273,359 		JBrowse link
G Parg poly(ADP-ribose) glycohydrolase ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624928:54,610...188,948
Ensembl chrNW_004624928:54,874...186,353 		JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624791:13,096,268...13,490,220
Ensembl chrNW_004624791:13,097,808...13,146,544 		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 chrNW_004624928:403,114...405,560
Ensembl chrNW_004624928:403,503...405,095 		JBrowse link
G Tmem273 transmembrane protein 273 ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624928:774,664...775,533 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 chrNW_004624928:847,501...924,779
Ensembl chrNW_004624928:841,527...924,785 		JBrowse link
G Wdfy4 WDFY family member 4 ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624928:943,547...1,243,954
Ensembl chrNW_004624928:943,864...1,221,243 		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 chrNW_004624907:2,288,380...2,298,909
Ensembl chrNW_004624907:2,288,423...2,298,373 		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 chrNW_004624782:4,508,758...4,537,751
Ensembl chrNW_004624782:4,512,650...4,537,701 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14102
    syndrome 9294
      Cockayne syndrome 32
        Cockayne syndrome A 4
        Cockayne syndrome B 18
        Forsythe-Wakeling Syndrome 0
        XFE progeroid syndrome 2
        cerebrooculofacioskeletal syndrome + 6
Path 2
Term Annotations click to browse term
  disease 14102
    disease of anatomical entity 13770
      musculoskeletal system disease 7235
        connective tissue disease 4911
          bone disease 3621
            bone development disease 2143
              Dwarfism 787
                Cockayne syndrome 32
                  Cockayne syndrome A 4
                  Cockayne syndrome B 18
                  Forsythe-Wakeling Syndrome 0
                  XFE progeroid syndrome 2
                  cerebrooculofacioskeletal syndrome + 6
paths to the root