hereditary spastic paraplegia 17
Information
- Disease name
- hereditary spastic paraplegia 17
- Disease ID
- DOID:0110770
- Description
- "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14981520]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:2476
- Cross Reference ID (Disease Ontology)
- GARD:4219
- Cross Reference ID (Disease Ontology)
- ICD10CM:G11.4
- Cross Reference ID (Disease Ontology)
- MIM:270685
- Cross Reference ID (Disease Ontology)
- ORDO:100998
- Exact Synonym (Disease Ontology)
- autosomal dominant spastic paraplegia 17
- Exact Synonym (Disease Ontology)
- autosomal dominant spastic paraplegia type 17
- Exact Synonym (Disease Ontology)
- dHMN5B
- Exact Synonym (Disease Ontology)
- distal hereditary motor neuropathy type 5B
- Exact Synonym (Disease Ontology)
- Silver spastic paraplegia syndrome
- Exact Synonym (Disease Ontology)
- Silver syndrome
- Exact Synonym (Disease Ontology)
- spastic paraplegia with amyotrophy of hands and feet
- Exact Synonym (Disease Ontology)
- spastic paraplegia-amyotrophy of hands and feet
- Exact Synonym (Disease Ontology)
- SPG17