Rare Disease Library

Congenital neutropenia-myelofibrosis-nephromegaly syndrome

Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome · VPS45 deficiency

Congenital nephrotic syndrome, Finnish type

Finnish congenital nephrosis

Congenital neutropenia

Constitutional neutropenia

Congenital vascular bone syndrome

Joubert syndrome with hepatic defect

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

Pierson syndrome

Microcoria-congenital nephrosis syndrome

Syndrome with congenital neutropenia as a major feature

Syndrome with constitutional neutropenia as a major feature · Syndrome with genetic neutropenia as a major feature

Ventriculomegaly-cystic kidney disease

Congenital nephrosis-cerebral ventriculomegaly syndrome · VMCKD