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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 2
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Accession:DOID:9007127 term browser browse the term
Synonyms:exact_synonym: COFS2
 primary_id: MESH:C565185
 alt_id: OMIM:610756;   RDO:0013902
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:610756
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2
OMIM
ClinVar
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Cockayne syndrome 12
        Cerebrooculofacioskeletal Syndrome 5
          Cerebrooculofacioskeletal Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            disease of mental health 5993
              developmental disorder of mental health 3113
                specific developmental disorder 2287
                  intellectual disability 2107
                    Cerebrooculofacioskeletal Syndrome 2 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.