# Barth syndrome

> lipid metabolism disorder that has material basis in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin

**Wikidata**: [Q928424](https://www.wikidata.org/wiki/Q928424)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Barth_syndrome)  
**Source**: https://4ort.xyz/entity/barth-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Freebase Data Dumps. 2013
4. TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome
5. UniProt
6. A novel X-linked gene, G4.5. is responsible for Barth syndrome
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1629e6ab-9749-4949-bf54-fe1addf4dcfd-2021-02-12T170000.000Z)
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000102125/MONDO_0010543)
9. [Identifiers.org](https://registry.identifiers.org/registry/doid)