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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;   agenesis of the corpus callosum with facial anomalies and cerebellar ataxia
 primary_id: OMIM:616819;   RDO:9000764
For additional species annotation, visit the Alliance of Genome Resources.



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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: Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia
ClinVar
OMIM
PMID:25388005 PMID:25741868 NCBI chr17:73,667,787...74,258,487
Ensembl chr17:73,667,789...74,258,687
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    Pathological Conditions, Signs and Symptoms 10388
      Anatomical Pathological Conditions 2026
        Agenesis of Corpus Callosum 198
          CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA 1
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        central nervous system disease 10506
          brain disease 9870
            movement disease 1417
              Dyskinesias 1079
                Ataxia 510
                  Spinocerebellar Ataxias 348
                    cerebellar ataxia 277
                      CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA 1
paths to the root