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ONTOLOGY REPORT - ANNOTATIONS


Term:COACH syndrome
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Accession:DOID:0111589 term browser browse the term
Definition:COACH syndrome is an autosomal recessive disorder characterized by oligophrenia (mental retardation), ataxia due to cerebellar vermis hypo/aplasia, and hepatic fibrosis. Other features, such as ocular coloboma and renal cysts, may be variable. COACH syndrome is considered by some to be a subtype of Joubert syndrome (JBTS) with congenital hepatic fibrosis. Identification of liver disease in these patients is critical because some may develop complications such as portal hypertension with fatal variceal bleeding. COACH syndrome is most commonly associated with compound heterozygous mutation in the TMEM67 gene on chromosome 8q22. (OMIM)
Synonyms:exact_synonym: Gentile syndrome;   JS-H;   Joubert syndrome with congenital hepatic fibrosis;   Joubert syndrome with hepatic defect;   cerebellar vermis hypo-aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis;   cerebellar vermis hypo-aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis
 primary_id: MESH:C536430
 alt_id: DOID:9004008;   OMIM:216360
 xref: GARD:1410;   ORDO:1454
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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

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  disease 15609
    syndrome 5791
      COACH syndrome 3
Path 2
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  disease 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        central nervous system disease 8544
          brain disease 7900
            movement disease 1057
              Dyskinesias 766
                Ataxia 312
                  COACH syndrome 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.