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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:cerebrooculofacioskeletal syndrome 1
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Accession:DOID:0080911 term browser browse the term
Definition:A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11. (DO)
Synonyms:exact_synonym: COFS1;   Pena-Shokeir syndrome, type II
 primary_id: MESH:C562434
 alt_id: DOID:9003294;   OMIM:214150
 xref: NCI:C173085

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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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14102
    syndrome 9294
      Cockayne syndrome 32
        cerebrooculofacioskeletal syndrome 6
          cerebrooculofacioskeletal syndrome 1 2
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
                  cerebrooculofacioskeletal syndrome 6
                    cerebrooculofacioskeletal syndrome 1 2
paths to the root