ONTOLOGY REPORT - ANNOTATIONS


Term:COACH Syndrome
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Accession:DOID:9004008 term browser browse the term
Synonyms:exact_synonym: Cerebellar Vermis Hypo-Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, And Hepatic Fibrosis;   Cerebellar vermis hypo-aplasia, Oligophrenia, Ataxia congenital, Coloboma, and Hepatic fibrosis;   JOUBERT SYNDROME WITH CONGENITAL HEPATIC FIBROSIS
 primary_id: MESH:C536430;   RDO:0002025
 alt_id: OMIM:216360
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COACH Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:7240710
RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:7240710
RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:7240710
RGD:8554872
RGD:11535944
RGD:11535946

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      COACH Syndrome 3
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
                  COACH Syndrome 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.