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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:0080913 term browser browse the term
Definition:A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous mutation in the ERCC5 gene on chromosome 13q33. (DO)
Synonyms:exact_synonym: COFS3
 primary_id: MESH:C565035
 alt_id: DOID:9001554;   OMIM:616570

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cerebrooculofacioskeletal syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 3 OMIM
ClinVar		 PMID:8818951 PMID:9096355 PMID:9536098 PMID:11443545 PMID:17466625 More... NCBI chrNW_004624793:8,632,581...8,657,514
Ensembl chrNW_004624793:8,632,471...8,657,346 		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 3 1
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 3 1
paths to the root