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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:CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
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Accession:DOID:9006921 term browser browse the term
Synonyms:exact_synonym: BIRK-FLUSSER SYNDROME;   CCAFCA;   FINE-FLUSSER SYNDROME;   FRMD4A-RELATED CONDITION;   agenesis of the corpus callosum with facial anomalies and cerebellar ataxia
 primary_id: MIM:616819


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CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia | ClinVar Annotator: match by term: FRMD4A-related condition OMIM
ClinVar		 PMID:25388005 PMID:25741868 PMID:28492532 NCBI chr17:73,667,787...74,258,487
Ensembl chr17:73,667,789...74,258,687 		JBrowse link
G Prpf18 pre-mRNA processing factor 18 ISO ClinVar Annotator: match by term: FRMD4A-related condition ClinVar PMID:28492532 NCBI chr17:73,630,560...73,661,210
Ensembl chr17:73,630,571...73,690,979 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Pathological Conditions, Signs and Symptoms 13626
      Anatomical Pathological Conditions 2866
        Agenesis of Corpus Callosum 381
          CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA 2
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
                  Spinocerebellar Ataxias 558
                    cerebellar ataxia 482
                      CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA 2
paths to the root