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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00214 | Hypophosphatemic rickets | Hypophosphataemic rickets, also known as vitamin D resistant rickets, is a group of genetic disorders characterized by defective reabsorption of inorganic phosphorus by the renal tubules resulting in hypophosphatemia ... | Inherited metabolic disorder |
(XLHR) PHEX [HSA:5251] [KO:K08636] (XLRH) CLCN5 [HSA:1184] [KO:K05012] (ADHR) FGF23 [HSA:8074] [KO:K22428] (ARHR1) DMP1 [HSA:1758] [KO:K23328] (ARHR2) ENPP1 [HSA:5167] [KO:K01513] (HHRH) SLC34A3 [HSA:142680] [KO:K14683] |
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| H02143 | X-linked dominant hypophosphatemic rickets | ... Manifestations of XLH include rickets in children, short stature, and osteomalacia. Mutations in the PHEX gene have been identified as the cause of XLH. PHEX encodes a metalloprotease that is found in the ... | Inherited metabolic disorder | PHEX [HSA:5251] [KO:K08636] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |