# hereditary spastic paraplegia 5A

> 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

**Wikidata**: [Q32143227](https://www.wikidata.org/wiki/Q32143227)  
**Source**: https://4ort.xyz/entity/hereditary-spastic-paraplegia-5a


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000172817/MONDO_0010047)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000172817/Orphanet_100986)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)