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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
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MESH:C563840
OMIM:608885
Orphanet:168577
UMLS:C1837206
MONDO:0012143
High level summary of knowledge for a disease, including descriptions and datasource references.