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Entry Name Description Category Pathway Gene
H00772 Paroxysmal extreme pain disorder Paroxysmal extreme pain disorder (PEPD) is an autosomal dominant pain disorder resulting from a set of gain-of-function mutations in SCN9A, the gene encoding Nav1.7, that impair inactivation of Nav1.7 ... Nervous system disease SCN9A [HSA:6335] [KO:K04841]
H01119 Prolidase deficiency Prolidase deficiency (PD) is a severe autosomal recessive disorder due to the lack of prolidase (EC:3.4.13.9), a peptidase with a preference for Xaa-Pro dipeptide substrates that participates in collagen ... Inherited metabolic disorder PEPD [HSA:5184] [KO:K14213]
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