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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00849 | Cerebral creatine deficiency syndrome | ... group of inborn errors of creatine metabolism, that includes X-linked creatine deficiency syndrome (CCDS1), guanidinoacetate methyltransferase deficiency (CCDS2), and arginine:glycine amidinotransferase ... | Inherited metabolic disorder |
(CCDS1) SLC6A8 [HSA:6535] [KO:K05041] (CCDS2) GAMT [HSA:2593] [KO:K00542] (CCDS3) GATM [HSA:2628] [KO:K00613] |
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| H02474 | Blepharocheilodontic syndrome | Blepharocheilodontic syndrome (BCDS) is a rare autosomal dominant disorder characterized by eyelid malformations, cleft lip/palate, and ectodermal dysplasia. It has been reported that BCDS is caused by ... | Congenital malformation |
(BCDS1) CDH1 [HSA:999] [KO:K05689] (BCDS2) CTNND1 [HSA:1500] [KO:K05690] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |