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Disease Ontology Browser
COACH syndrome (DOID:0111589)
Alliance: disease page
Synonyms: cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis; Gentile syndrome; Joubert syndrome with congenital hepatic fibrosis; Joubert syndrome with hepatic defect; JS-H
Alt IDs: OMIM:216360, MESH:C536430, ORDO:1454, UMLS_CUI:C1857662
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).

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory