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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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0100512 | Decreased circulating vitamin D concentration |
| HP:0100530 | Abnormal circulating calcium-phosphate regulating hormone concentration |
| HP:0100589 | Urogenital fistula |
| HP:0100612 | Odontogenic neoplasm |
| HP:0100716 | Self-injurious behavior |
| HP:0100750 | Atelectasis |
| HP:0100820 | Glomerulopathy |
| HP:0100825 | Cheilitis |
| HP:0100835 | Benign neoplasm of the central nervous system |
| HP:0200042 | Skin ulcer |
