# lethal polymalformative syndrome, Boissel type

> human disease

**Wikidata**: [Q55783947](https://www.wikidata.org/wiki/Q55783947)  
**Source**: https://4ort.xyz/entity/lethal-polymalformative-syndrome-boissel-type


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations
4. UMLS 2023