| Metadata | |
|---|---|
| ID | DOID:1056 |
| Name | oculocerebrorenal syndrome |
| 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. https://www.omim.org/entry/309000, https://ghr.nlm.nih.gov/condition/lowe-syndrome |
| Xrefs |
SNOMEDCT_US_2023_03_01:79385002 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
lowe oculocerebrorenal syndrome [EXACT] Lowe syndrome [EXACT] oculocerebrorenal syndrome of Lowe [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance |