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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;   RDO:0015095;   RDO:0015239
 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 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 RGD PMID:19114557 RGD:10401087 NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329
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 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
ClinVar
RGD
PMID:9443879 PMID:10739753 PMID:10767341 PMID:16199547 PMID:18414213 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 DNA:nonsense mutation: :p.Y322X (human)
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Cockayne syndrome | ClinVar Annotator: match by term: Progeroid nanism
CTD
ClinVar
RGD
PMID:14661080 PMID:15744458 PMID:19329487 PMID:19894250 PMID:22466610 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...60,476,438
Ensembl chr 5:60,431,673...60,475,726
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: 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 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 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
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation
DNA:point mutation: :c.3862C>T (human)
OMIM
ClinVar
CTD
RGD
PMID:887325 PMID:1339317 PMID:7063265 PMID:9150142 PMID:9443879 More... RGD:10401101, RGD:10401092 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 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
OMIM
RGD
PMID:7585650 PMID:7920640 PMID:8571952 PMID:9238033 PMID:9651581 More... RGD:1601070 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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 OMIM
ClinVar
PMID:8818951 PMID:9096355 PMID:11443545 PMID:17466625 PMID:24700531 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 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 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 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 1 | ClinVar Annotator: match by term: Cockayne syndrome type 1
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 PMID:14661080 PMID:15744458 PMID:19329487 PMID:19384974 PMID:19894250 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO
IMP
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
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 1:78,971,310...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 OMIM
ClinVar
PMID:8797827 PMID:9579555 PMID:15886521 PMID:17183314 PMID:20221251 More... NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    syndrome 9746
      Cockayne syndrome 14
        Cockayne syndrome A 2
        Cockayne syndrome B 3
        Forsythe-Wakeling Syndrome 0
        XFE progeroid syndrome 2
        cerebrooculofacioskeletal syndrome + 5
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      musculoskeletal system disease 7282
        connective tissue disease 5140
          bone disease 3815
            bone development disease 1885
              Dwarfism 742
                Cockayne syndrome 14
                  Cockayne syndrome A 2
                  Cockayne syndrome B 3
                  Forsythe-Wakeling Syndrome 0
                  XFE progeroid syndrome 2
                  cerebrooculofacioskeletal syndrome + 5
paths to the root