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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 OMIM
ClinVar		 PMID:25561519 PMID:25741868 PMID:27748960 PMID:28492532 NCBI chr14:85,851,908...85,950,489
Ensembl chr14:105,635,757...105,714,465 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10166
      cerebellofaciodental syndrome 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          brain disease 11204
            movement disease 2498
              Dyskinesias 2132
                Ataxia 933
                  hereditary ataxia 637
                    cerebellar ataxia 466
                      cerebellofaciodental syndrome 1
paths to the root