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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 characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.
Synonyms:exact_synonym: Cockayne Syndrome Type C;   Cockayne syndrome type 3;   Cockayne syndrome type III;   Cockayne's syndrome;   Dwarfism-Retinal Atrophy-Deafness Syndrome;   Group C Cockayne Syndrome;   Neill-Dingwall syndrome;   Progeria Like Syndrome;   Progeria-Like Syndromes;   Progeroid Nanism
 primary_id: MESH:D003057
 xref: GARD:6122;   ICD10CM:Q87.1;   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 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 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
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 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO RGD PMID:19114557 RGD:10401087 NCBI chr18:25,037,668...25,068,380
Ensembl chr18:25,037,625...25,068,389
JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease ISO RGD PMID:15082767 RGD:10401090 NCBI chr 9:50,928,847...50,970,962
Ensembl chr 9:50,925,619...50,970,955
JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by OMIM:133540
ClinVar Annotator: match by term: Progeroid nanism
ClinVar Annotator: match by term: Cockayne syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exon:p.D532G (c.1595A>G), p.L536W (c.1607T>G) (human)
ClinVar Annotator: match by term: Cockayne syndrome, type B
DNA:splice-site mutation, deletion:exon, intron:c.1293_1320del, c.2709 + 1G>T (human)
DNA:insertion: :c.1034_1035insT (human)
ClinVar
CTD
PMID:9443879, PMID:10739753, PMID:10767341, PMID:18414213, PMID:22466610, PMID:22466612, PMID:25440059, PMID:25741868, PMID:26972010, PMID:28492532, PMID:30311386, PMID:25463447, PMID:23599700, PMID:18446857 RGD:11567232, RGD:10401100, RGD:10401095 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
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
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation: :p.Y322X (human)
ClinVar
CTD
PMID:22466610, PMID:22466612, PMID:22824526, PMID:19894250, PMID:21108394 RGD:7246919, RGD:11064547, RGD:10401108 NCBI chr 2:39,434,617...39,473,392
Ensembl chr 2:39,434,634...39,472,017
JBrowse link
G Ghr growth hormone receptor ISO RGD PMID:17326724 RGD:10003139 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:17326724 RGD:10003139 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Cockayne syndrome ClinVar NCBI chr 2:39,322,145...39,434,535
Ensembl chr 2:39,321,741...39,434,560
JBrowse link
G Xpa XPA, DNA damage recognition and repair factor ISO RGD PMID:19114557 RGD:10401087 NCBI chr 5:61,749,767...61,793,641
Ensembl chr 5:61,749,767...61,792,928
JBrowse link
Cerebrooculofacioskeletal Syndrome term browser
Symbol Object Name 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: Cerebrooculofacioskeletal Syndrome ClinVar PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
JBrowse link
Cerebrooculofacioskeletal Syndrome 1 term browser
Symbol Object Name 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 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CEREBROOCULOFACIOSKELETAL SYNDROME 1
DNA:nonsense mutation
DNA:point mutation: :c.3862C>T (human)
ClinVar Annotator: match by OMIM:214150
OMIM
ClinVar
CTD
PMID:1372469, PMID:7063265, PMID:9443879, PMID:10739753, PMID:10767341, PMID:18414213, PMID:18628313, PMID:19894250, PMID:20456449, PMID:22661500, PMID:22904069, PMID:23422418, PMID:23428416, PMID:25136123, PMID:25741868, PMID:25820262, PMID:26204423, PMID:26749132, PMID:27004399, PMID:28492532, PMID:29572252, PMID:30311386, PMID:10739753, PMID:20456449 RGD:10401101, RGD:10401092 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
JBrowse link
Cerebrooculofacioskeletal Syndrome 2 term browser
Symbol Object Name 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
ClinVar Annotator: match by OMIM:610756
ClinVar
OMIM
PMID:7585650, PMID:7920640, PMID:8571952, PMID:9101292, PMID:9238033, PMID:11156600, PMID:11443545, PMID:11710928, PMID:12820975, PMID:15494306, PMID:18470933, PMID:18603627, PMID:18628313, PMID:18637129, PMID:20944642, PMID:22826098, PMID:23221806, PMID:23232694, PMID:23800062, PMID:24033266, PMID:24252196, PMID:24448499, PMID:24728327, PMID:25620205, PMID:25716912, PMID:25741868, PMID:26556299, PMID:27004399, PMID:27745642, PMID:29478780, PMID:11443545 RGD:1601070 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
Cerebrooculofacioskeletal Syndrome 3 term browser
Symbol Object Name 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 ClinVar
OMIM
PMID:8818951, PMID:11443545, PMID:17466625, PMID:24700531 NCBI chr 9:50,928,847...50,970,962
Ensembl chr 9:50,925,619...50,970,955
JBrowse link
Cerebrooculofacioskeletal Syndrome 4 term browser
Symbol Object Name 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
ClinVar Annotator: match by OMIM:610758
OMIM
ClinVar
PMID:17273966, PMID:23623389, PMID:25741868, PMID:28492532 NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
JBrowse link
G Polr1g RNA polymerase I subunit G ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:80,267,725...80,271,001
Ensembl chr 1:80,267,725...80,271,001
JBrowse link
Cockayne Syndrome A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Cockayne syndrome type A
ClinVar
OMIM
PMID:7664335, PMID:9338586, PMID:14661080, PMID:15744458, PMID:16865293, PMID:18414213, PMID:19384974, PMID:19894250, PMID:20571988, PMID:21108394, PMID:21681106, PMID:21924235, PMID:22099533, PMID:22829088, PMID:25525159, PMID:25741868, PMID:26173784, PMID:26616585, PMID:27004399, PMID:27597947, PMID:28492532, PMID:29057985, PMID:29422660, PMID:29572252, PMID:31319225, PMID:16865293 RGD:10401106 NCBI chr 2:39,434,617...39,473,392
Ensembl chr 2:39,434,634...39,472,017
JBrowse link
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Cockayne syndrome type A ClinVar PMID:14661080, PMID:19384974, PMID:19894250, PMID:20571988, PMID:21681106, PMID:21924235, PMID:22099533, PMID:27597947, PMID:28492532, PMID:29572252 NCBI chr 2:39,322,145...39,434,535
Ensembl chr 2:39,321,741...39,434,560
JBrowse link
Cockayne Syndrome B term browser
Symbol Object Name 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: Cockayne syndrome, type B
ClinVar Annotator: match by term: Cockayne syndrome B
ClinVar Annotator: match by term: Cockayne Syndrome, Type II
ClinVar
OMIM
PMID:1372469, PMID:7063265, PMID:7264357, PMID:9443879, PMID:9777763, PMID:10196384, PMID:10767341, PMID:15486090, PMID:18414213, PMID:18446857, PMID:18628313, PMID:18784753, PMID:19894250, PMID:20122405, PMID:20456449, PMID:21143350, PMID:21228398, PMID:22466610, PMID:22483866, PMID:22661500, PMID:22904069, PMID:23311583, PMID:23422418, PMID:23428416, PMID:24154677, PMID:25136123, PMID:25251875, PMID:25326635, PMID:25741868, PMID:25820262, PMID:26204423, PMID:26206375, PMID:26749132, PMID:27004399, PMID:27356891, PMID:28170084, PMID:28492532, PMID:29203878, PMID:29572252, PMID:29915382, PMID:30311386, PMID:32860008 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
JBrowse link
Xeroderma Pigmentosum G / Cockayne Syndrome term browser
Symbol Object Name 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 9:50,928,847...50,970,962
Ensembl chr 9:50,925,619...50,970,955
JBrowse link
XFE progeroid syndrome term browser
Symbol Object Name 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 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
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:17183314, PMID:20221251, PMID:21612988, PMID:23623389, PMID:24033266, PMID:24728327, PMID:25741868, PMID:26074087, PMID:27356891, PMID:27528516, PMID:28431612, PMID:28492532, PMID:28678401, PMID:28767289, PMID:29105242, PMID:29403087, PMID:29892709 NCBI chr10:2,010,140...2,037,953
Ensembl chr10:2,010,648...2,037,891
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Cockayne syndrome 12
        Cerebrooculofacioskeletal Syndrome + 5
        Cockayne Syndrome A 2
        Cockayne Syndrome B 1
        Forsythe-Wakeling Syndrome 0
        XFE progeroid syndrome 2
        Xeroderma Pigmentosum B / Cockayne Syndrome 0
        Xeroderma Pigmentosum G / Cockayne Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      musculoskeletal system disease 5737
        connective tissue disease 4096
          bone disease 3526
            bone development disease 1336
              Dwarfism 494
                Cockayne syndrome 12
                  Cerebrooculofacioskeletal Syndrome + 5
                  Cockayne Syndrome A 2
                  Cockayne Syndrome B 1
                  Forsythe-Wakeling Syndrome 0
                  XFE progeroid syndrome 2
                  Xeroderma Pigmentosum B / Cockayne Syndrome 0
                  Xeroderma Pigmentosum G / Cockayne Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.