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Summary Literature (0)
DOID:0111589 - COACH syndrome


Disease Ontology Definition:A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in one of 3 genes (TMEM67, CC2D2A, RPGRIP1L).

Synonyms: Gentile syndrome, JS-H, Joubert syndrome with congenital hepatic fibrosis, Joubert syndrome with hepatic defect, cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis

In OMIM:
OMIM:216360 - COACH SYNDROME 1; COACH1


Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : tmem67, rpgrip1l, cc2d2a

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)