# X-linked adrenoleukodystrophy

> peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency

**Wikidata**: [Q366964](https://www.wikidata.org/wiki/Q366964)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Adrenoleukodystrophy)  
**Source**: https://4ort.xyz/entity/x-linked-adrenoleukodystrophy


## References

1. [Source](https://ddrare.nibiohn.go.jp/)
2. Disease Ontology
3. Monarch Disease Ontology release 2018-06-29
4. Freebase Data Dumps. 2013
5. Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_815e0f84-b530-4fd2-81a9-02e02bf352ee-2020-12-18T170000.000Z)
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e37330f6-9036-44a6-ac05-12c4005cdcec-2020-12-18T050000.000Z)
8. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_815e0f84-b530-4fd2-81a9-02e02bf352ee-2020-12-18T050000.000Z)
9. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000101986/MONDO_0018544)
10. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000101986/Orphanet_43)
11. [Identifiers.org](https://registry.identifiers.org/registry/doid)
12. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)