congenital disorder of glycosylation

carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids
MedicalCondition rare_disease Q1125675
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congenital disorder of glycosylation

Summary

congenital disorder of glycosylation is a rare disease[1]. It draws 33 Wikipedia views per month (rare_disease category, ranking #210 of 627).[2]

Key Facts

  • congenital disorder of glycosylation's instance of is recorded as rare disease[3].
  • congenital disorder of glycosylation's instance of is recorded as class of disease[4].
  • congenital disorder of glycosylation's subclass of is recorded as carbohydrate metabolic disorder[5].
  • congenital disorder of glycosylation's MeSH descriptor ID is recorded as D018981[6].
  • congenital disorder of glycosylation's OMIM ID is recorded as 212065[7].
  • congenital disorder of glycosylation's DiseasesDB is recorded as 2012[8].
  • congenital disorder of glycosylation's DiseasesDB is recorded as 31730[9].
  • congenital disorder of glycosylation's MeSH tree code is recorded as C16.320.565.202.125[10].
  • congenital disorder of glycosylation's MeSH tree code is recorded as C18.452.648.202.125[11].
  • congenital disorder of glycosylation's Disease Ontology ID is recorded as DOID:5212[12].
  • congenital disorder of glycosylation's Encyclopædia Britannica Online ID is recorded as topic/congenital-disorder-of-glycosylation[13].
  • congenital disorder of glycosylation's Encyclopædia Britannica Online ID is recorded as topic/type-I-congenital-disorder-of-glycosylation[14].
  • congenital disorder of glycosylation's Encyclopædia Britannica Online ID is recorded as topic/type-Ia-congenital-disorder-of-glycosylation[15].
  • congenital disorder of glycosylation's Orphanet ID is recorded as 137[16].
  • congenital disorder of glycosylation's BBC Things ID is recorded as 08583510-8f90-47f1-a0b0-34661dbe7848[17].
  • congenital disorder of glycosylation's ICD-9-CM is recorded as 271.8[18].
  • congenital disorder of glycosylation's NCI Thesaurus ID is recorded as C84615[19].
  • congenital disorder of glycosylation's health specialty is recorded as endocrinology[20].
  • congenital disorder of glycosylation's genetic association is recorded as PMM2[21].
  • congenital disorder of glycosylation's exact match is recorded as http://purl.obolibrary.org/obo/DOID_5212[22].
  • congenital disorder of glycosylation's exact match is recorded as http://identifiers.org/doid/DOID:5212[23].
  • congenital disorder of glycosylation's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_137[24].
  • congenital disorder of glycosylation's UMLS CUI is recorded as C0282577[25].
  • congenital disorder of glycosylation's ICD-10-CM is recorded as E77.8[26].
  • congenital disorder of glycosylation's PatientsLikeMe condition ID is recorded as congenital-disorders-of-glycosylation[27].

Why It Matters

congenital disorder of glycosylation draws 33 Wikipedia views per month (rare_disease category, ranking #210 of 627).[2] It has Wikipedia articles in 7 language editions, a strong signal of global cultural recognition.[28] It is known by 14 alternative names across languages and contexts.[29]

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] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [7] . wikidata.org.
  6. [8] . wikidata.org.
  7. [9] . wikidata.org.
  8. [10] . wikidata.org.
  9. [11] . wikidata.org.
  10. [12] . Disease Ontology. Retrieved . wikidata.org.
  11. [13] . wikidata.org.
  12. [14] . wikidata.org.
  13. [15] . wikidata.org.
  14. [16] . Disease Ontology. Retrieved . wikidata.org.
  15. [17] . BBC Things. wikidata.org.
  16. [18] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  17. [19] . Disease Ontology. Retrieved . wikidata.org.
  18. [20] . wikidata.org.
  19. [21] . Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). wikidata.org.
  20. [22] . Disease Ontology. Retrieved . wikidata.org.
  21. [23] . Identifiers.org. ebi.ac.uk. Provenance: wikidata.org.
  22. [24] . wikidata.org.
  23. [25] . Disease Ontology. Retrieved . wikidata.org.
  24. [26] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  25. [27] . wikidata.org.

Class ancestry

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

Aggregate / graph-position facts

  1. [2] . Wikimedia Foundation. dumps.wikimedia.org.
  2. [28] . Wikidata sitelinks. wikidata.org.
  3. [29] . 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). congenital disorder of glycosylation. Retrieved May 3, 2026, from https://4ort.xyz/entity/congenital-disorder-of-glycosylation
MLA “congenital disorder of glycosylation.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/congenital-disorder-of-glycosylation.
BibTeX @misc{4ortxyz_congenital-disorder-of-glycosylation_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{congenital disorder of glycosylation}}, year = {2026}, url = {https://4ort.xyz/entity/congenital-disorder-of-glycosylation}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): congenital disorder of glycosylation — https://4ort.xyz/entity/congenital-disorder-of-glycosylation (retrieved 2026-05-03)

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