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Entry | Name | Description | Category | Pathway | Gene |
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H00577 | Symptomatic generalized epilepsies | Symptomatic generalized epilepsies are considered the consequence of a known or suspected disorder of the central nervous system. They include West syndrome, Lennox-Gastaut syndrome, Dravet syndrome, Epilepsy ... | Nervous system disease |
(RMFSL) BRAT1 [HSA:221927] [KO:K23112] (EPILX) SYN1 [HSA:6853] [KO:K19941] (EPILX2) GABRA3 [HSA:2556] [KO:K05175] |
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H02087 |
Vertebral, cardiac, renal, and limb defects syndrome Congenital NAD deficiency disorder |
Vertebral, cardiac, renal, and limb defects syndrome (VCRL) is an autosomal recessive congenital malformation syndrome. It has been reported that disruption of nicotinamide adenine dinucleotide (NAD) synthesis ... | Inherited metabolic disorder |
(VCRL1) HAAO [HSA:23498] [KO:K00452] (VCRL2) KYNU [HSA:8942] [KO:K01556] (VCRL3) NADSYN1 [HSA:55191] [KO:K01950] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |