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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 A
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Accession:DOID:0080907 term browser browse the term
Definition:A Cockayne syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein on chromosome 5q11. (DO)
Synonyms:exact_synonym: CSA;   Cockayne syndrome type 1;   Cockayne syndrome type A;   Cockayne syndrome, classical;   Type I Cockayne Syndrome;   group A Cockayne syndrome
 broad_synonym: ERCC8-RELATED CONDITION
 primary_id: OMIM:216400
 alt_id: DOID:9007866
 xref: GARD:1415;   MONDO:0019569;   NCI:C135725

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Cockayne syndrome A term browser
Symbol Object Name 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_004955446:7,792,778...7,857,218
Ensembl chrNW_004955446:7,792,756...7,858,615 		JBrowse link
G Elovl7 ELOVL fatty acid elongase 7 ISO ClinVar Annotator: match by term: Cockayne syndrome type 1 ClinVar NCBI chrNW_004955446:7,732,291...7,758,842
Ensembl chrNW_004955446:7,700,511...7,758,842 		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_004955446:7,345,467...7,439,885 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14195
    syndrome 9376
      Cockayne syndrome 32
        Cockayne syndrome A 3
Path 2
Term Annotations click to browse term
  disease 14195
    disease of anatomical entity 13850
      musculoskeletal system disease 7281
        connective tissue disease 4941
          bone disease 3625
            bone development disease 2153
              Dwarfism 783
                Cockayne syndrome 32
                  Cockayne syndrome A 3
paths to the root