# holocarboxylase synthetase deficiency

> human disease

**Wikidata**: [Q5883885](https://www.wikidata.org/wiki/Q5883885)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Holocarboxylase_synthetase_deficiency)  
**Source**: https://4ort.xyz/entity/holocarboxylase-synthetase-deficiency


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ad306285-9588-48e3-a6fa-183db3f01fe9-2021-02-26T171131.548Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000159267/MONDO_0009666)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)