# guanidinoacetate methyltransferase deficiency

> Human disease

**Wikidata**: [Q5613758](https://www.wikidata.org/wiki/Q5613758)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Guanidinoacetate_methyltransferase_deficiency)  
**Source**: https://4ort.xyz/entity/guanidinoacetate-methyltransferase-deficiency


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/f0a84d45-57f8-4763-b1c5-7a283cef5f71--2019-01-25T17:00:00)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f0a84d45-57f8-4763-b1c5-7a283cef5f71-2019-01-25T170000.000Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000130005/MONDO_0012999)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)