preferred_name: hereditary cryohydrocytosis with reduced stomatin
preferred_name_lc: hereditary cryohydrocytosis with reduced stomatin
label: CRYOHYDROCYTOSIS, STOMATIN-DEFICIENT, WITH MENTAL RETARDATION, SEIZURES, CATARACTS, AND MASSIVE HEPATOSPLENOMEGALY
label_lc: cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly