# Sanfilippo syndrome

> mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain

**Wikidata**: [Q2200359](https://www.wikidata.org/wiki/Q2200359)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Sanfilippo_syndrome)  
**Source**: https://4ort.xyz/entity/sanfilippo-syndrome


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. BBC Things
5. Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome
6. The molecular basis of Sanfilippo syndrome type B
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000108784/MONDO_0018937)
8. Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C)
9. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000165102/MONDO_0018937)
10. Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase
11. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000135677/MONDO_0018937)
12. [Identifiers.org](https://registry.identifiers.org/registry/doid)