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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:0080912 term browser browse the term
Definition:A cerebrooculofacioskeletal syndrome that has_material_basis_in compound heterozygous mutation in the DNA repair gene XPD (ERCC2) on chromosome 19q13. (DO)
Synonyms:exact_synonym: COFS2
 primary_id: MESH:C565185
 alt_id: DOID:9007127;   MIM:610756


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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)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2		 OMIM
CTD
ClinVar
RGD		 PMID:3341805 PMID:7585650 PMID:7825573 PMID:7920640 PMID:8571952 More... RGD:1601070 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Klc3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2 ClinVar PMID:25741868 NCBI chr 1:79,045,842...79,055,809
Ensembl chr 1:79,045,844...79,055,416 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    physical disorder 5193
      arthrogryposis multiplex congenita 260
        cerebrooculofacioskeletal syndrome 2 2
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14355
        central nervous system disease 12628
          brain disease 11845
            disease of mental health 8440
              developmental disorder of mental health 5641
                specific developmental disorder 4605
                  intellectual disability 4377
                    cerebrooculofacioskeletal syndrome 2 2
paths to the root