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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: 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
Xenbase Genes
:
tmem67,
rpgrip1l,
cc2d2a
| MIM:216360 - COACH SYNDROME 1; COACH1 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)