# Fabry disease

> rare human genetic lysosomal storage disorder

**Wikidata**: [Q615645](https://www.wikidata.org/wiki/Q615645)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Fabry_disease)  
**Source**: https://4ort.xyz/entity/fabry-disease


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Freebase Data Dumps. 2013
4. NDF-RT
5. Drug Indications Extracted from FAERS
6. [European Medicines Agency](http://www.ema.europa.eu/ema/index.jsp?curl=pages/medicines/human/medicines/004059/human_med_001981.jsp)
7. UniProt
8. Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene
9. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/eb4bb6f4-89de-4586-af6b-3f218b8cb4dc--2019-01-23T17:00:00)
10. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eb4bb6f4-89de-4586-af6b-3f218b8cb4dc-2019-01-23T170000.000Z)
11. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000102393/MONDO_0010526)
12. YSO-Wikidata mapping project
13. [Identifiers.org](https://registry.identifiers.org/registry/doid)
14. Human Phenotype Ontology release 2018-03-08
15. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)