Oculocerebrorenal Syndrome
Disease ID: disease_node_5654
Connections displayed (default: 10).
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| Dbxref | GARD:3295, ICD10CM:E72.03, MEDDRA:10051707, MESH:D009800, MIM:309000, NCI:C84940, ORDO:534, SNOMEDCT_US_2023_03_01:79385002, UMLS_CUI:C0028860 |
|---|---|
| Subclassof | DOID_0080012, DOID_225 |
| Data Source | DOID, MESH |
| Synonyms | Lowe syndrome, lowe oculocerebrorenal syndrome, oculocerebrorenal syndrome of Lowe |
| Mesh Id | D009800 |
| Mesh Label | Oculocerebrorenal Syndrome |
| Mesh Subclassof | D015499, D000015, D020157, D030342, D040181, D020739 |
| Doid Label | oculocerebrorenal syndrome |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_5654 |
| Doid Id | DOID_1056 |
| Label | Oculocerebrorenal Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease)