# alkaptonuria

> amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct

**Wikidata**: [Q651680](https://www.wikidata.org/wiki/Q651680)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Alkaptonuria)  
**Source**: https://4ort.xyz/entity/alkaptonuria


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. [Source](http://www.patient.co.uk/patientplus/a.htm)
5. UniProt
6. The molecular basis of alkaptonuria
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/5186836d-d9c6-4829-a0c9-59548460d6f2--2019-02-08T17:00:00)
8. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/5186836d-d9c6-4829-a0c9-59548460d6f2--2020-06-29T17:41:25)
9. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5186836d-d9c6-4829-a0c9-59548460d6f2-2020-06-29T174125.541Z)
10. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000113924/MONDO_0008753)
11. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)
12. KBpedia
13. GF WordNet
14. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)