Rare Disease Library

Senior-Boichis syndrome

Boichis disease · Nephronophthisis-hepatic fibrosis syndrome

Adult familial nephronophthisis-spastic quadriparesia syndrome

Galloway-Mowat syndrome

Galloway syndrome · Microcephaly-hiatus hernia-nephrotic syndrome

Genetic nephrotic syndrome

Hereditary nephrotic syndrome

Idiopathic nephrotic syndrome

Joubert syndrome with hepatic defect

COACH syndrome · Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis

Nephronophthisis