Sanfilippo syndrome

mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain
MedicalCondition rare_disease Q2200359
Press Enter · cited answer in seconds

Sanfilippo syndrome

Summary

Sanfilippo syndrome is a rare disease[1]. It ranks in the top 7% of rare_disease entities by monthly Wikipedia readership (588 views/month).[2]

Key Facts

  • Sanfilippo syndrome's instance of is recorded as rare disease[3].
  • Sanfilippo syndrome's instance of is recorded as class of disease[4].
  • Sanfilippo syndrome is a type of mucopolysaccharidosis[5].
  • Sanfilippo syndrome is a type of disease[6].
  • Sanfilippo syndrome's Commons category is recorded as Sanfilippo syndrome[7].
  • Sanfilippo syndrome's mode of inheritance is recorded as autosomal recessive[8].
  • Sanfilippo syndrome's NCI Thesaurus ID is recorded as C84897[9].
  • Sanfilippo syndrome's NCI Thesaurus ID is recorded as C84898[10].
  • Sanfilippo syndrome's NCI Thesaurus ID is recorded as C61262[11].
  • Sanfilippo syndrome's health specialty is recorded as medical genetics[12].
  • Sanfilippo syndrome's genetic association is recorded as SGSH[13].
  • Sanfilippo syndrome's genetic association is recorded as NAGLU[14].
  • Sanfilippo syndrome's genetic association is recorded as HGSNAT[15].
  • Sanfilippo syndrome's genetic association is recorded as GNS[16].
  • Sanfilippo syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_12801[17].
  • Sanfilippo syndrome's exact match is recorded as http://identifiers.org/doid/DOID:12801[18].
  • Sanfilippo syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_581[19].
  • Sanfilippo syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[20].

Why It Matters

Sanfilippo syndrome ranks in the top 7% of rare_disease entities by monthly Wikipedia readership (588 views/month).[2] It has Wikipedia articles in 15 language editions, a strong signal of global cultural recognition.[21] It is known by 32 alternative names across languages and contexts.[22]

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

  1. [3] . wikidata.org.
  2. [4] . wikidata.org.
  3. [5] . Disease Ontology. Retrieved . wikidata.org.
  4. [6] . wikidata.org.
  5. [7] . wikidata.org.
  6. [8] . wikidata.org.
  7. [9] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [10] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [11] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [12] . wikidata.org.
  11. [13] . Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome. wikidata.org.
  12. [14] . The molecular basis of Sanfilippo syndrome type B. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  13. [15] . Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C). Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  14. [16] . Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  15. [17] . Disease Ontology. Retrieved . wikidata.org.
  16. [18] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  17. [19] . wikidata.org.
  18. [20] . wikidata.org.

Class ancestry

  1. [1] . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] . Wikimedia Foundation. dumps.wikimedia.org.
  2. [21] . Wikidata sitelinks. wikidata.org.
  3. [22] . Wikidata aliases. wikidata.org.

📑 Cite this page

Use these citations when quoting this entity in research, articles, AI prompts, or wherever provenance matters. We aggregate Wikidata + Wikipedia + authoritative open-data sources; the stitched, scored, cross-referenced view is what 4ort.xyz contributes.

APA 4ort.xyz Knowledge Graph. (2026). Sanfilippo syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/sanfilippo-syndrome
MLA “Sanfilippo syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/sanfilippo-syndrome.
BibTeX @misc{4ortxyz_sanfilippo-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Sanfilippo syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/sanfilippo-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Sanfilippo syndrome — https://4ort.xyz/entity/sanfilippo-syndrome (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/sanfilippo-syndrome · Last refreshed:

Edit History

Rolling log of changes to this entity's Wikidata record. Values shown reflect the current state of each edited property — follow the history link to see the precise diff for any edit.

  1. 22d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Subclass of mucopolysaccharidosis, disease
    Health specialty medical genetics
    Mode of inheritance autosomal recessive
    Genetic association SGSH, NAGLU, HGSNAT +1
    + 5 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39732|batch #39732]]: rm redundant subclass"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.