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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
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q01968 | Inositol polyphosphate 5-phosphatase OCRL |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000023 | Inguinal hernia |
| HP:0000027 | Azoospermia |
| HP:0000028 | Cryptorchidism |
| HP:0000083 | Renal insufficiency |
| HP:0000091 | Abnormal renal tubule morphology |
| HP:0000093 | Proteinuria |
| HP:0000121 | Nephrocalcinosis |
| HP:0000164 | Abnormality of the dentition |
| HP:0000189 | Narrow palate |
| HP:0000194 | Open mouth |
