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hereditary spastic paraplegia 5A
Summary
- Synonym
-
- SPG5A
- autosomal recessive spastic paraplegia 5A
- autosomal recessive spastic paraplegia type 5A
- Definition
- A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12.
- Super Class
- autosomal recessive disease hereditary spastic paraplegia
External Links
- Disease Ontology
- DOID:0110810
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- WikiPathways (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000079 | Abnormality of the urinary system |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000518 | Cataract |
| HP:0000639 | Nystagmus |
| HP:0001258 | Spastic paraplegia |
| HP:0001260 | Dysarthria |
| HP:0001271 | Polyneuropathy |
| HP:0001317 | Abnormal cerebellum morphology |
| HP:0001761 | Pes cavus |
| HP:0002015 | Dysphagia |
