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 14875
    syndrome 4220
      Cerebellofaciodental Syndrome 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            movement disease 993
              Dyskinesias 713
                Ataxia 304
                  hereditary ataxia 192
                    cerebellar ataxia 176
                      Cerebellofaciodental Syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.