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hereditary cryohydrocytosis with reduced stomatin

Disease Summary
Associated Targets (1)
Tchem

1


Explore Associated Targets
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
MESH:C563840: 
Orphanet:168577: 
UMLS:C1837206: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found