# hereditary spastic paraplegia 47

> hereditary spastic paraplegia that has material basis in mutation in the AP4B1 gene on chromosome 1p13

**Wikidata**: [Q32143094](https://www.wikidata.org/wiki/Q32143094)  
**Source**: https://4ort.xyz/entity/hereditary-spastic-paraplegia-47


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000134262/MONDO_0013551)
6. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)