Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00692 |
Lowe syndrome Oculocerebrorenal Dystrophy (OCRL) |
Lowe Syndrome, or Oculocerebrorenal Dystrophy (OCRL) is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney. This is a rare X-linked disorder caused by ... | Inherited metabolic disorder | OCRL [HSA:4952] [KO:K01099] | |
| H00694 | Dent disease | ... nephrocalcinosis, and progressive renal failure. The disease is caused by mutations in either the CLCN5 or OCRL1 genes. CLCN5 encodes a member of the ClC family of chloride ion channels and ion transporters. ... | Urinary system disease |
(DENT1) CLCN5 [HSA:1184] [KO:K05012] (DENT2) OCRL [HSA:4952] [KO:K01099] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |