# ornithine carbamoyltransferase deficiency

> urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase

**Wikidata**: [Q3043161](https://www.wikidata.org/wiki/Q3043161)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Ornithine_transcarbamylase_deficiency)  
**Source**: https://4ort.xyz/entity/ornithine-carbamoyltransferase-deficiency


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/132fafbf-bb34-447c-9f6a-65803679eeb8--2019-10-29T18:13:25)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_132fafbf-bb34-447c-9f6a-65803679eeb8-2019-10-29T181325.783Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000036473/EFO_0007409)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)
9. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)