# carnitine-acylcarnitine translocase deficiency

> medical condition

**Wikidata**: [Q5044061](https://www.wikidata.org/wiki/Q5044061)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Carnitine-acylcarnitine_translocase_deficiency)  
**Source**: https://4ort.xyz/entity/carnitine-acylcarnitine-translocase-deficiency


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Cloning of the Human Carnitine-Acylcarnitine Carrier cDNA and Identification of the Molecular Defect in a Patient
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/95c9aece-49b5-496f-9547-f6d03dd69b4f--2018-05-22T16:00:00)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_95c9aece-49b5-496f-9547-f6d03dd69b4f-2018-05-22T160000.000Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000178537/MONDO_0008918)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)