hereditary spastic paraplegia 30
Information
- Disease name
- hereditary spastic paraplegia 30
- Disease ID
- DOID:0110781
- Description
- "A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF1A gene on chromosome 2q37." [url:https\://pubmed.ncbi.nlm.nih.gov/31488895/, url:https\://www.ncbi.nlm.nih.gov/pubmed/21487076]
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)
- ICD10CM:G11.4
- Cross Reference ID (Disease Ontology)
- MIM:610357
- Cross Reference ID (Disease Ontology)
- ORDO:101010
- Exact Synonym (Disease Ontology)
- autosomal spastic paraplegia type 30
- Exact Synonym (Disease Ontology)
- SPG30
- Disase Synonym (Disease Ontology)
- autosomal dominant spastic paraplegia 30
- Disase Synonym (Disease Ontology)
- autosomal recessive spastic paraplegia 30