# creatine transporter deficiency

> Human disease

**Wikidata**: [Q17084842](https://www.wikidata.org/wiki/Q17084842)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Creatine_transporter_defect)  
**Source**: https://4ort.xyz/entity/creatine-transporter-deficiency


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/3795f0ae-7668-47b8-b69e-9c686b82bd0a--2020-02-10T17:00:00)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3795f0ae-7668-47b8-b69e-9c686b82bd0a-2020-02-10T170000.000Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000130821/MONDO_0010305)
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000130821/Orphanet_52503)
9. [Identifiers.org](https://registry.identifiers.org/registry/doid)