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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:0007513 | Generalized hypopigmentation |
| HP:0007731 | Chorioretinal dysplasia |
| HP:0007957 | Corneal opacity |
| HP:0008069 | Neoplasm of the skin |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0009804 | Tooth agenesis |
| HP:0010471 | Oligosacchariduria |
| HP:0010807 | Open bite |
| HP:0011527 | Lentiglobus |
| HP:0100493 | Hypoammonemia |
