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Entry Name Description Category Pathway Gene
H00183 Homocystinuria Homocystinuria (HC) is a metabolic disorder due to cystathionine beta-synthase deficiency leading to various malfunctions in the eyes and the central nervous, skeletal, and vascular systems. Inherited metabolic disorder CBS [HSA:875] [KO:K01697]
MTHFR [HSA:4524] [KO:K25004]
(HMAE) MTRR [HSA:4552] [KO:K00597]
(HMAG) MTR [HSA:4548] [KO:K00548]
(HMAD) MMADHC [HSA:27249] [KO:K26006]
H02842 Pan-Chung-Bellen syndrome Pan-Chung-Bellen syndrome (PCBS) is a novel syndrome characterized by developmental delay, intellectual disability, and dysmorphic features. It has been reported that mutations in FRYL cause this syndrome ... Congenital malformation FRYL [HSA:285527] [KO:K27804]
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