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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 1
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Accession:DOID:9003294 term browser browse the term
Synonyms:exact_synonym: COFS1;   Pena-Shokeir syndrome, type II
 primary_id: MESH:C562434
 alt_id: OMIM:214150
 xref: NCI:C173085
For additional species annotation, visit the Alliance of Genome Resources.


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Cerebrooculofacioskeletal Syndrome 1 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 IAGP ClinVar Annotator: match by term: CEREBROOCULOFACIOSKELETAL SYNDROME 1 ClinVar PMID:24728327, PMID:25741868 NCBI chr19:45,349,837...45,370,647
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP
EXP
DNA:point mutation: :c.3862C>T (human)
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1
DNA:nonsense mutation
ClinVar Annotator: match by term: CEREBROOCULOFACIOSKELETAL SYNDROME 1
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:1372469, PMID:7063265, PMID:9443879, PMID:10739753, PMID:10767341, PMID:18414213, PMID:18628313, PMID:19894250, PMID:20456449, PMID:22661500, PMID:22904069, PMID:23422418, PMID:23428416, PMID:25136123, PMID:25741868, PMID:25820262, PMID:26204423, PMID:26749132, PMID:27004399, PMID:28492532, PMID:29572252, PMID:30311386, PMID:20456449, PMID:10739753 RGD:10401092, RGD:10401101 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,470...49,539,538
JBrowse link
G PGBD3 piggyBac transposable element derived 3 IAGP ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1 ClinVar PMID:28492532 NCBI chr10:49,515,105...49,524,281
Ensembl chr10:49,454,470...49,539,538
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17777
    syndrome 7567
      Cockayne syndrome 15
        Cerebrooculofacioskeletal Syndrome 7
          Cerebrooculofacioskeletal Syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 17777
    disease of anatomical entity 16339
      musculoskeletal system disease 5929
        connective tissue disease 4109
          bone disease 3533
            bone development disease 1433
              Dwarfism 545
                Cockayne syndrome 15
                  Cerebrooculofacioskeletal Syndrome 7
                    Cerebrooculofacioskeletal Syndrome 1 3
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.