# carbamoyl phosphate synthetase I deficiency disease

> amino acid metabolic disorder that involves accumulation of ammonia in the blood

**Wikidata**: [Q5037834](https://www.wikidata.org/wiki/Q5037834)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Carbamoyl_phosphate_synthetase_I_deficiency)  
**Source**: https://4ort.xyz/entity/carbamoyl-phosphate-synthetase-i-deficiency-disease


## References

1. [The New Gene Therapy Playbook - by Eryney Marrogi](https://www.corememory.com/p/the-new-gene-therapy-playbook-babykj)
2. Disease Ontology
3. Monarch Disease Ontology release 2018-06-29
4. UniProt
5. Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/dbc4dbbe-8827-4d68-a396-8368f3801e78--2018-10-12T18:14:32)
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/dbc4dbbe-8827-4d68-a396-8368f3801e78--2018-10-12T16:00:00)
8. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dbc4dbbe-8827-4d68-a396-8368f3801e78-2018-10-12T160000.000Z)
9. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000021826/EFO_0007193)
10. [Identifiers.org](https://registry.identifiers.org/registry/doid)