# homocystinuria

> amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine

**Wikidata**: [Q994859](https://www.wikidata.org/wiki/Q994859)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Homocystinuria)  
**Source**: https://4ort.xyz/entity/homocystinuria


## References

1. Disease Ontology
2. Freebase Data Dumps. 2013
3. [Source](http://www.patient.co.uk/patientplus/h.htm)
4. Monarch Disease Ontology release 2018-06-29
5. NDF-RT
6. Homocystinuria: biogenesis of cystathionine beta-synthase subunits in cultured fibroblasts and in an in vitro translation system programmed with fibroblast messenger RNA
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000160200/Orphanet_394)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)
9. Human Phenotype Ontology release 2018-03-08
10. UMLS 2023
11. Great Norwegian Encyclopedia
12. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)