# methylmalonic acidemia cblA type

> Human disease

**Wikidata**: [Q28065545](https://www.wikidata.org/wiki/Q28065545)  
**Source**: https://4ort.xyz/entity/methylmalonic-acidemia-cbla-type


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5b81bb9e-5f71-47bf-b187-5eef83d91d57-2021-02-12T142402.133Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000151611/MONDO_0009613)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000151611/Orphanet_79310)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)