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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 4
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Accession:DOID:0080914 term browser browse the term
Definition:A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC1 gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: COFS4
 primary_id: MESH:C565184
 alt_id: DOID:9003501;   OMIM:610758
 xref: NCI:C173104



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cerebrooculofacioskeletal syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:17273966 PMID:23623389 PMID:25741868 PMID:28492532 PMID:33116287 More... NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
JBrowse link
G Polr1g RNA polymerase I subunit G ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 ClinVar PMID:25741868 PMID:28492532 PMID:33116287 NCBI chr 1:79,007,490...79,010,766
Ensembl chr 1:79,007,490...79,010,766
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      arthrogryposis multiplex congenita 242
        cerebrooculofacioskeletal syndrome 4 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            disease of mental health 8301
              developmental disorder of mental health 5543
                specific developmental disorder 4505
                  intellectual disability 4290
                    cerebrooculofacioskeletal syndrome 4 2
paths to the root