# argininosuccinic aciduria

> amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine

**Wikidata**: [Q1654860](https://www.wikidata.org/wiki/Q1654860)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Argininosuccinic_aciduria)  
**Source**: https://4ort.xyz/entity/argininosuccinic-aciduria


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. UniProt
5. Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/c16021b9-f6db-4e41-90f3-4786d63a1fa3--2018-09-15T16:00:00)
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c16021b9-f6db-4e41-90f3-4786d63a1fa3-2018-09-15T160000.000Z)
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000126522/MONDO_0008815)
9. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)
10. [Source](https://cdn.who.int/media/docs/default-source/classification/icd/icd-10/icd-10-to-meddra-map---june-2023---codes-mapping.xlsx)