# Infantile free sialic acid storage disease

> human disease

**Wikidata**: [Q2280692](https://www.wikidata.org/wiki/Q2280692)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Infantile_free_sialic_acid_storage_disease)  
**Source**: https://4ort.xyz/entity/infantile-free-sialic-acid-storage-disease


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000119899/MONDO_0010027)