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Entry	Name	Description	Category	Pathway	Gene
H00061	Prion disease Creutzfeldt-Jacob disease (CJD) Gerstmann-Straussler disease (GSD) Gerstmann-Straussler-Scheinker disease (GSSD) Fatal familial insomnia (FFI)	Prion diseases, also termed transmissible spongiform encephalopathies (TSEs), are a group of fatal neurodegenerative diseases that affect humans and a number of other animal species. The etiology of these ...	Neurodegenerative disease	hsa05020 Prion disease	PRNP (mutation) [HSA:5621] [KO:K05634]
H00668	Anemia due to disorders of glutathione metabolism	... ingestion of fava beans. GCLC catalyzes the initial and the rate-limiting step of glutathione synthesis. Deficiency of GCLC is extremely rare. GSS deficiency is a more frequent cause of glutathione deficiency.	Hematologic disease		G6PD [HSA:2539] [KO:K00036] GPX1 [HSA:2876] [KO:K00432] GCLC [HSA:2729] [KO:K11204] GSS [HSA:2937] [KO:K21456] GSR [HSA:2936] [KO:K00383]
H02232	CAGSSS syndrome Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	... growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS) is a very rare autosomal recessive disorder. It has been reported that mutations in IARS2 are associated ...	Congenital malformation		IARS2 [HSA:55699] [KO:K01870]
H02312	Glutathione synthetase deficiency	... autosomal recessive disorder. The clinical phenotype varies widely, and nearly 30 different mutations in the GSS gene have been identified. In severe form, it is characterized by massive urinary excretion of 5-oxoproline ...	Inherited metabolic disorder		GSS [HSA:2937] [KO:K21456]

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