# carnitine palmitoyltransferase I deficiency

> human disease

**Wikidata**: [Q3043143](https://www.wikidata.org/wiki/Q3043143)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Carnitine_palmitoyltransferase_I_deficiency)  
**Source**: https://4ort.xyz/entity/carnitine-palmitoyltransferase-i-deficiency


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Molecular basis of hepatic carnitine palmitoyltransferase I deficiency
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/dcea255c-11e4-46fd-b0f7-2de68311a75c--2018-01-23T17:00:00)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dcea255c-11e4-46fd-b0f7-2de68311a75c-2018-01-23T170000.000Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000110090/MONDO_0009705)
8. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)