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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H01113 | Acid phosphatase deficiency | Acid phosphatase deficiency is caused by defects in ACP2, that encodes the beta subunit of lysosomal acid phosphatase. The clinical features are intermittent vomiting, hypotonia, lethargy, opisthotonos ... | Inherited metabolic disorder, Lysosomal disease | ACP2 [HSA:53] [KO:K14410] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |