# Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency

> human disease

**Wikidata**: [Q55784783](https://www.wikidata.org/wiki/Q55784783)  
**Source**: https://4ort.xyz/entity/hyperammonemic-encephalopathy-due-to-carbonic-anhydrase-va-deficiency


## References

1. Monarch Disease Ontology release 2018-06-29
2. Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood
3. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/f7c5731a-866e-4a96-abb0-f0747f89280b--2018-09-10T16:00:00)
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f7c5731a-866e-4a96-abb0-f0747f89280b-2018-09-10T160000.000Z)
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000174990/MONDO_0014332)
6. UMLS 2023