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hyperkalemic periodic paralysis

Disease Summary
Associated Targets (4)
Tclin

2

Tbio

2


GARD Rare
Mondo Description Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.
Uniprot Description An autosomal dominant channelopathy characterized by episodic flaccid generalized muscle weakness associated with high levels of serum potassium. Concurrence of myotonia is found in HYPP patients.
Mondo Term and Equivalent IDs
MONDO:0008224:  hyperkalemic periodic paralysis
GARD:0000195: 
MESH:D020513: 
NCIT:C123429: 
Orphanet:682: 
SCTID:304737009: 
UMLS:C0238357: 
UMLS:CN074266: