oculocerebrorenal syndrome
Information
- Disease name
- oculocerebrorenal syndrome
- Disease ID
- DOID:1056
- 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." [url:https\://ghr.nlm.nih.gov/condition/lowe-syndrome, url:https\://www.omim.org/entry/309000]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01314560 | Completed | N/A | Study of the Pathophysiological Mechanisms Involved in Bleeding Events | February 2009 | December 2010 |
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:3295
- Cross Reference ID (Disease Ontology)
- ICD10CM:E72.03
- Cross Reference ID (Disease Ontology)
- MEDDRA:10051707
- Cross Reference ID (Disease Ontology)
- MESH:D009800
- Cross Reference ID (Disease Ontology)
- MIM:309000
- Cross Reference ID (Disease Ontology)
- NCI:C84940
- Cross Reference ID (Disease Ontology)
- ORDO:534
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:79385002
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0028860
- Exact Synonym (Disease Ontology)
- lowe oculocerebrorenal syndrome
- Exact Synonym (Disease Ontology)
- Lowe syndrome
- Exact Synonym (Disease Ontology)
- oculocerebrorenal syndrome of Lowe
- MeSH unique ID (MeSH (Medical Subject Headings))
- D009800