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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00207 | Rhizomelic chondrodysplasia punctata | Rhizomelic chondrodysplasia punctata (RCDP) is a lethal autosomal recessive disease associated with impaired peroxisomes characterized by proximal limb shortening, severely disturbed endochondrial bone ... | Inherited metabolic disorder, Peroxisomal disease |
(RCDP1) PEX7 [HSA:5191] [KO:K13341] (RCDP2) GNPAT [HSA:8443] [KO:K00649] (RCDP3) AGPS [HSA:8540] [KO:K00803] (RCDP4) FAR1 [HSA:84188] [KO:K13356] (RCDP5) PEX5 [HSA:5830] [KO:K13342] |
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| H02100 | Peroxisomal fatty acyl-CoA reductase 1 disorder | Peroxisomal fatty acyl-CoA reductase 1 (FAR1) disorder is a peroxisomal disorder, that is also referred to as rhizomelic chondrodysplasia punctata type 4 (RCDP4). It is characterized by syndromic severe ... | Inherited metabolic disorder | FAR1 [HSA:84188] [KO:K13356] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |