Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
Accession:DOID:9003294 term browser browse the term
Synonyms:exact_synonym: COFS1;   Pena-Shokeir syndrome, type II
 primary_id: MESH:C562434
 alt_id: OMIM:214150
 xref: NCI:C173085
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 6:51,734,318...51,757,508
Ensembl chr 6:51,734,319...51,779,624
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor ISO OMIM NCBI chr14:89,998,125...90,075,911
Ensembl chr14:90,002,024...90,075,898
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12615
    syndrome 6096
      Cockayne syndrome 12
        Cerebrooculofacioskeletal Syndrome 5
          Cerebrooculofacioskeletal Syndrome 1 2
Path 2
Term Annotations click to browse term
  disease 12615
    disease of anatomical entity 12148
      musculoskeletal system disease 5132
        connective tissue disease 3554
          bone disease 3052
            bone development disease 1293
              Dwarfism 482
                Cockayne syndrome 12
                  Cerebrooculofacioskeletal Syndrome 5
                    Cerebrooculofacioskeletal Syndrome 1 2
paths to the root

NHLBI Logo

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