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oculocerebrorenal syndrome
Summary
- Synonym
-
- Lowe syndrome
- lowe oculocerebrorenal syndrome
- oculocerebrorenal syndrome of Lowe
- Definition
- A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney.
- Super Class
- X-linked recessive disease syndrome
Related Genes
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002900 | Hypokalemia |
| HP:0002902 | Hyponatremia |
| HP:0002999 | Patellar dislocation |
| HP:0003124 | Hypercholesterolemia |
| HP:0003355 | Aminoaciduria |
| HP:0004322 | Short stature |
| HP:0005469 | Flat occiput |
| HP:0005562 | Multiple renal cysts |
| HP:0005930 | Abnormal epiphysis morphology |
| HP:0007018 | Attention deficit hyperactivity disorder |
