autosomal dominant cerebellar ataxia
Information
- Disease name
- autosomal dominant cerebellar ataxia
- Disease ID
- DOID:1441
- Description
- "A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance." [url:http\://www.ncbi.nlm.nih.gov/books/NBK1138/, url:http\://www.ncbi.nlm.nih.gov/books/NBK22234/]
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:0050753
- Cross Reference ID (Disease Ontology)
- MESH:D020754
- Cross Reference ID (Disease Ontology)
- MIM:PS164400
- Cross Reference ID (Disease Ontology)
- NCI:C82341
- Cross Reference ID (Disease Ontology)
- ORDO:94
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:129609000
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0087012
- Exact Synonym (Disease Ontology)
- spinocerebellar ataxia
- OrphaNumber from OrphaNet (Orphanet)
- 99