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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:cerebellofaciodental syndrome
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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



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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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25561519 PMID:25741868 PMID:27748960 PMID:28492532 NCBI chr 6:132,034,378...132,081,313
Ensembl chr 6:132,037,272...132,081,278
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21142
    syndrome 10749
      cerebellofaciodental syndrome 1
Path 2
Term Annotations click to browse term
  disease 21142
    disease of anatomical entity 18190
      nervous system disease 14019
        central nervous system disease 12373
          brain disease 11610
            movement disease 2574
              Dyskinesias 2188
                Ataxia 957
                  hereditary ataxia 636
                    cerebellar ataxia 472
                      cerebellofaciodental syndrome 1
paths to the root