Alstrom syndrome
Information
- Disease name
- Alstrom syndrome
- Disease ID
- DOID:0050473
- Description
- "A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene." [url:http\://en.wikipedia.org/wiki/Alstrom_syndrome]
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 |
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- MESH:D056769
- Cross Reference ID (Disease Ontology)
- MIM:203800
- Cross Reference ID (Disease Ontology)
- NCI:C84549
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:63702009
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0268425
- MeSH unique ID (MeSH (Medical Subject Headings))
- D056769