Oculocerebrorenal syndrome
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| OMIM | 309000 | |
|---|---|---|
| DiseasesDB | 29146 | |
| eMedicine | oph/516 | |
| MeSH | C10.228.140.163.100.640 | |
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oculocerebrorenal syndrome of Lowe
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| Identifiers | |
| Symbol(s) | OCRL |
| Entrez | 4952 |
| OMIM | 300535 |
| RefSeq | NM_000276 |
| UniProt | Q01968 |
| Other data | |
| Locus | Chr. X q25-q26.1 |
Oculocerebrorenal syndrome (also called Lowe syndrome) is a X-linked recessive disorder characterized by hydrophthalmia, cataracts, mental retardation, aminoaciduria, reduced renal ammonia production and vitamin D-resistant rickets.
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