COACH syndrome
A Mendelian disease characterized by infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate intellectual disability.
MONDO:0015508
obsolete hereditary parenchymatous liver disease (obsolete MONDO:0015508)
excluded_subClassOf
MONDO:0015369
Joubert syndrome and related disorders
is_a
MONDO:0021147
disorder of development or morphogenesis
is_a
JS-H
exact
Joubert syndrome with congenital hepatic fibrosis
exact
Joubert syndrome with hepatic defect
exact
cerebellar vermis hypo/aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis
related
cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
exact
gentile syndrome
exact