Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:cerebellofaciodental syndrome
go back to main search page
Accession:DOID:0080898 term browser browse the term
Definition:A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32. (DO)
Synonyms:exact_synonym: CFDS;   cerebellar-facial-dental syndrome
 primary_id: OMIM:616202
 xref: EFO:0009030;   ORDO:444072
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
cerebellofaciodental syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brf1 BRF1, RNA polymerase III transcription initiation factor subunit ISO ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome OMIM
ClinVar
PMID:25561519 PMID:25741868 PMID:28492532 NCBI chr 6:132,034,380...132,081,296
Ensembl chr 6:132,037,272...132,081,278
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    syndrome 9746
      cerebellofaciodental syndrome 1
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13208
        central nervous system disease 11365
          brain disease 10659
            movement disease 1744
              Dyskinesias 1401
                Ataxia 549
                  hereditary ataxia 407
                    cerebellar ataxia 282
                      cerebellofaciodental syndrome 1
paths to the root