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hereditary cryohydrocytosis with reduced stomatin
Disease Summary
Associated Targets (1)
Tchem
1
Uniprot Description A rare form of stomatocytosis characterized by episodic hemolytic anemia, cold-induced red cells cation leak, erratic hyperkalemia, neonatal hyperbilirubinemia, hepatosplenomegaly, cataracts, seizures, mental retardation, and movement disorder.
Mondo Term and Equivalent IDs
MONDO:0012143: hereditary cryohydrocytosis with reduced stomatin