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ONTOLOGY REPORT - ANNOTATIONS


Term:Cerebellofaciodental Syndrome
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Accession:DOID:9003804 term browser browse the term
Definition:An autosomal recessive neurodevelopmental disorder characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia.
Synonyms:exact_synonym: CEREBELLAR-FACIAL-DENTAL SYNDROME;   CFDS
 primary_id: OMIM:616202;   RDO:9000645
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Cerebellofaciodental Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brf1 BRF1, RNA polymerase III transcription initiation factor subunit JBrowse link 6 137,762,230 137,808,573 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Cerebellofaciodental Syndrome 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            movement disease 989
              Dyskinesias 702
                Ataxia 300
                  Spinocerebellar Ataxias 200
                    cerebellar ataxia 173
                      Cerebellofaciodental Syndrome 1
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