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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 3
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Accession:DOID:9001554 term browser browse the term
Synonyms:exact_synonym: COFS3
 primary_id: MESH:C565035
 alt_id: OMIM:616570;   RDO:0013789
For additional species annotation, visit the Alliance of Genome Resources.


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Cerebrooculofacioskeletal Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIVM-ERCC5 BIVM-ERCC5 readthrough IAGP ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 3 ClinVar PMID:24700531 NCBI chr13:102,807,146...102,875,995
Ensembl chr13:102,807,146...102,876,001
Ensembl chr13:102,807,146...102,876,001
JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 3 ClinVar
OMIM
PMID:8818951, PMID:11443545, PMID:17466625, PMID:24700531 NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995
Ensembl chr13:102,845,831...102,875,995
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    syndrome 7565
      Cockayne syndrome 15
        Cerebrooculofacioskeletal Syndrome 7
          Cerebrooculofacioskeletal Syndrome 3 2
Path 2
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 16335
      musculoskeletal system disease 5929
        connective tissue disease 4109
          bone disease 3533
            bone development disease 1432
              Dwarfism 544
                Cockayne syndrome 15
                  Cerebrooculofacioskeletal Syndrome 7
                    Cerebrooculofacioskeletal Syndrome 3 2
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.