aspartylglucosaminuria

disease that is characterized by a decline in mental functioning, accompanied by an increase in skin, bone and joint issues
MedicalCondition developmental_defect_during_embryogenesis Q4412533
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aspartylglucosaminuria

Summary

aspartylglucosaminuria is a developmental defect during embryogenesis[1]. aspartylglucosaminuria draws 48 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #119 of 308).[2]

Key Facts

  • aspartylglucosaminuria's instance of is recorded as developmental defect during embryogenesis[3].
  • aspartylglucosaminuria's instance of is recorded as rare disease[4].
  • aspartylglucosaminuria's instance of is recorded as class of disease[5].
  • aspartylglucosaminuria is a type of lysosomal storage disease[6].
  • aspartylglucosaminuria is a type of lysosomal disease with epilepsy[7].
  • aspartylglucosaminuria is a type of rare genetic epilepsy[8].
  • aspartylglucosaminuria is a type of neurometabolic disease[9].
  • aspartylglucosaminuria is a type of oligosaccharidosis[10].
  • aspartylglucosaminuria is a type of lysosomal storage disease with skeletal involvement[11].
  • aspartylglucosaminuria is a type of rare genetic developmental defect during embryogenesis[12].
  • aspartylglucosaminuria is a type of genetic disease[13].
  • aspartylglucosaminuria's NCI Thesaurus ID is recorded as C61273[14].
  • aspartylglucosaminuria's health specialty is recorded as medical genetics[15].
  • aspartylglucosaminuria's health specialty is recorded as endocrinology[16].
  • aspartylglucosaminuria's genetic association is recorded as AGA[17].
  • aspartylglucosaminuria's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050461[18].
  • aspartylglucosaminuria's exact match is recorded as http://identifiers.org/doid/DOID:0050461[19].
  • aspartylglucosaminuria's exact match is recorded as http://purl.obolibrary.org/obo/HP_0012068[20].
  • aspartylglucosaminuria's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_93[21].
  • aspartylglucosaminuria's on focus list of Wikimedia project is recorded as WikiProject Medicine[22].

Why It Matters

aspartylglucosaminuria draws 48 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #119 of 308).[2] aspartylglucosaminuria has Wikipedia articles in 10 language editions, a strong signal of global cultural recognition.[23] aspartylglucosaminuria is known by 13 alternative names across languages and contexts.[24]

References

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

Direct Wikidata claims

  1. [3] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  2. [4] . wikidata.org.
  3. [5] . wikidata.org.
  4. [6] . Disease Ontology. Retrieved . wikidata.org.
  5. [7] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [8] . Monarch Disease Ontology release 2018-06-29. Retrieved . 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] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  11. [13] . Disease Ontology. Retrieved . wikidata.org.
  12. [14] . Disease Ontology. Retrieved . wikidata.org.
  13. [15] . wikidata.org.
  14. [16] . wikidata.org.
  15. [17] . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  16. [18] . Disease Ontology. Retrieved . wikidata.org.
  17. [19] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  18. [20] . Human Phenotype Ontology release 2018-03-08. Retrieved . wikidata.org.
  19. [21] . wikidata.org.
  20. [22] . wikidata.org.

Class ancestry

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

Aggregate / graph-position facts

  1. [2] . Wikimedia Foundation. dumps.wikimedia.org.
  2. [23] . Wikidata sitelinks. wikidata.org.
  3. [24] . 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). aspartylglucosaminuria. Retrieved May 3, 2026, from https://4ort.xyz/entity/aspartylglucosaminuria
MLA “aspartylglucosaminuria.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/aspartylglucosaminuria.
BibTeX @misc{4ortxyz_aspartylglucosaminuria_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{aspartylglucosaminuria}}, year = {2026}, url = {https://4ort.xyz/entity/aspartylglucosaminuria}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): aspartylglucosaminuria — https://4ort.xyz/entity/aspartylglucosaminuria (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/aspartylglucosaminuria · 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. 15d ago · Twofivesixbot bot · 2026-05-19 view diff on Wikidata ↗
    Subclass of lysosomal storage disease, lysosomal disease with epilepsy, rare genetic epilepsy +5
    Instance of
    Aliases
    Subclass of
    + 4 other properties edited (see Wikidata diff for full list)
    "/* wbsetclaim-update-qualifiers:1||1|11 */ [[Property:P2347]]: 19663, mv to monolingual text names on YSO statements"
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