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RGD uses the Human Disease Ontology (DO, 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;   OMIM:610756
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
PMID:7585650 PMID:7920640 PMID:8571952 PMID:9238033 PMID:9651581 PMID:11443545 PMID:11710928 PMID:11734544 PMID:12820975 PMID:15494306 PMID:18510925 PMID:18637129 PMID:19931493 PMID:19934020 PMID:20944642 PMID:22234153 PMID:22826098 PMID:23039039 PMID:23221806 PMID:23232694 PMID:23800062 PMID:24033266 PMID:24252196 PMID:24418926 PMID:24448499 PMID:24728327 PMID:25620205 PMID:25741868 PMID:26556299 PMID:26884178 PMID:27004399 PMID:27396511 PMID:28492532 PMID:29478780, PMID:11443545 RGD:1601070 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Neurodevelopmental Disorders 5664
        intellectual disability 3433
          cerebrooculofacioskeletal syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        central nervous system disease 10353
          brain disease 9712
            disease of mental health 7022
              developmental disorder of mental health 4362
                specific developmental disorder 3621
                  intellectual disability 3433
                    cerebrooculofacioskeletal syndrome 2 1
paths to the root