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Entry	Name	Description	Category	Gene
H00218	Cystic fibrosis	Cystic fibrosis (CF) is an autosomal recessive disorder of the exocrine glands caused by mutation of CFTR gene which encodes an ABC transporter for salt homeostasis. CF is a common lethal single-gene disorder ...	Respiratory system disease	CFTR [HSA:1080] [KO:K05031] TGFB1 [HSA:7040] [KO:K13375] FCGR2A [HSA:2212] [KO:K06472]
H00933	Hereditary pancreatitis Hereditary chronic pancreatitis	Hereditary pancreatitis is a very rare form of chronic relapsing pancreatitis. Its inheritance mode is autosomal dominant with an incomplete penetrance (80%). Patients had recurrent pancreatitis with impairment ...	Digestive system disease	PRSS1 [HSA:5644] [KO:K01312] SPINK1 [HSA:6690] [KO:K23417] CFTR [HSA:1080] [KO:K05031] PRSS2 [HSA:5645] [KO:K01312] CTRC [HSA:11330] [KO:K01311]
H01033	Congenital bilateral absence of vas deferens	... male infertility. In 80% of patients with CBAVD, mutations are identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Recently, mutations in ADGRG2 gene have been identified.	Congenital malformation	(CBAVD) CFTR [HSA:1080] [KO:K05031] (CBAVDX) ADGRG2 [HSA:10149] [KO:K08451]

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