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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H00180 |
Holocarboxylase synthetase deficiency Multiple carboxylase deficiency |
Holocarboxylase synthetase (HLCS) deficiency is an autosomal recessive disorder of biotin metabolism that results from holocarboxylase synthetase activity disruption. HLCS deficiency is also called multiple ... | Inherited metabolic disorder | HLCS [HSA:3141] [KO:K01942] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |