Blau syndrome
Information
- Disease name
- Blau syndrome
- Disease ID
- DOID:0050678
- Description
- "A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene." [url:http\://en.wikipedia.org/wiki/Blau_syndrome, url:http\://www.omim.org/entry/186580?search=186580&highlight=186580]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01793168 | Recruiting | Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford | July 2010 | December 2100 | |
| NCT06206811 | Recruiting | Phase 1 | Phase 1 Study to Investigate OD-07656 in Healthy Adult Participants | February 12, 2024 | October 2025 |
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:304
- Cross Reference ID (Disease Ontology)
- MESH:C538157
- Cross Reference ID (Disease Ontology)
- MIM:186580
- Cross Reference ID (Disease Ontology)
- NCI:C116794
- Exact Synonym (Disease Ontology)
- ARTHROCUTANEOUVEAL GRANULOMATOSIS
- Exact Synonym (Disease Ontology)
- BLAUS
- Exact Synonym (Disease Ontology)
- Jabs syndrome
- OrphaNumber from OrphaNet (Orphanet)
- 90340