# cardiomyopathy-hypotonia-lactic acidosis syndrome

> defect in gene encoding a mitochondrial membrane transporter

**Wikidata**: [Q55783767](https://www.wikidata.org/wiki/Q55783767)  
**Source**: https://4ort.xyz/entity/cardiomyopathy-hypotonia-lactic-acidosis-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000075415/Orphanet_91130)
5. UMLS 2023