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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: BRF1-RELATED CONDITION;   CFDS;   cerebellar-facial-dental syndrome
 primary_id: MIM: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 general transcription factor IIIB subunit ISO ClinVar Annotator: match by term: BRF1-related condition | ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome OMIM
ClinVar		 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    syndrome 11372
      cerebellofaciodental syndrome 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        central nervous system disease 12630
          brain disease 11847
            movement disease 2633
              Dyskinesias 2234
                Ataxia 957
                  hereditary ataxia 632
                    cerebellar ataxia 482
                      cerebellofaciodental syndrome 1
paths to the root