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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 chr17:78,577,062...79,167,924
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 chr17:78,539,004...78,570,483
Ensembl chr17:73,630,571...73,690,979 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    Pathological Conditions, Signs and Symptoms 13627
      Anatomical Pathological Conditions 2865
        Agenesis of Corpus Callosum 383
          CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA 2
Path 2
Term Annotations click to browse term
  disease 19142
    disease of anatomical entity 18455
      nervous system disease 14362
        central nervous system disease 12636
          brain disease 11856
            movement disease 2632
              Dyskinesias 2232
                Ataxia 957
                  Spinocerebellar Ataxias 557
                    cerebellar ataxia 482
                      CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA 2
paths to the root