# ornithine translocase deficiency

> amino acid metabolic disorder that has material basis in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood

**Wikidata**: [Q7103627](https://www.wikidata.org/wiki/Q7103627)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Ornithine_translocase_deficiency)  
**Source**: https://4ort.xyz/entity/ornithine-translocase-deficiency


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/e5cb32c9-d506-484f-b023-1c4f17ef0d93--2019-12-04T17:00:00)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e5cb32c9-d506-484f-b023-1c4f17ef0d93-2019-12-04T170000.000Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000102743/MONDO_0009393)
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000102743/Orphanet_415)
9. [Identifiers.org](https://registry.identifiers.org/registry/doid)