Joubert syndrome and related disorders obsolete hereditary parenchymatous liver disease disorder of development or morphogenesis COACH syndrome https://github.com/monarch-initiative/mondo/issues/4986 https://www.malacards.org/card/coach_syndrome_1 UMLS:C1857662 DOID:0111589 JS-H cerebellar vermis hypo/aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis MONDO:0100349 MEDGEN:387879 Orphanet:1454 SCTID:721847002 A Mendelian disease characterized by infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate intellectual disability. gentile syndrome MESH:C536430 cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis GARD:0001410 Joubert syndrome with hepatic defect Joubert syndrome with congenital hepatic fibrosis