retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.
MONDO:0003847
hereditary disease
is_a
MONDO:0020249
hereditary optic neuropathy
is_a
ROSAH
exact
ROSAH syndrome
exact
optic nerve edema-splenomegaly syndrome
exact
retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache
exact