# combined malonic and methylmalonic acidemia

> human disease

**Wikidata**: [Q55784284](https://www.wikidata.org/wiki/Q55784284)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Combined_malonic_and_methylmalonic_aciduria)  
**Source**: https://4ort.xyz/entity/combined-malonic-and-methylmalonic-acidemia


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/b215e20c-7781-49a0-b473-9219cb07e0b9--2020-10-09T16:00:00)
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b215e20c-7781-49a0-b473-9219cb07e0b9-2020-10-09T160000.000Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000176715/MONDO_0013661)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)