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NGLY1-deficiency

Human disease
MedicalCondition rare_disease Q28024539
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NGLY1-deficiency

Summary

NGLY1-deficiency is a rare disease[1]. NGLY1-deficiency draws 66 Wikipedia views per month (rare_disease category, ranking #232 of 627).[2]

Key Facts

  • NGLY1-deficiency's instance of is recorded as rare disease[3].
  • NGLY1-deficiency's instance of is recorded as class of disease[4].
  • NGLY1-deficiency is a type of carbohydrate metabolic disorder[5].
  • NGLY1-deficiency is a type of congenital disorder of glycosylation type I[6].
  • NGLY1-deficiency is a type of genetic syndromic intellectual disability[7].
  • NGLY1-deficiency is a type of other inborn metabolic disease[8].
  • NGLY1-deficiency is a type of genetic disease[9].
  • NGLY1-deficiency's symptoms and signs is recorded as global developmental delay[10].
  • NGLY1-deficiency's symptoms and signs is recorded as movement disorders[11].
  • NGLY1-deficiency's symptoms and signs is recorded as hypotonia[12].
  • NGLY1-deficiency's symptoms and signs is recorded as Alacrima[13].
  • NGLY1-deficiency's symptoms and signs is recorded as electroencephalography abnormalities[14].
  • NGLY1-deficiency's symptoms and signs is recorded as constipation[15].
  • NGLY1-deficiency's symptoms and signs is recorded as elevated transaminases[16].
  • NGLY1-deficiency's symptoms and signs is recorded as microcephaly[17].
  • NGLY1-deficiency's symptoms and signs is recorded as abnormal brain imaging[18].
  • NGLY1-deficiency's symptoms and signs is recorded as intrauterine growth restriction[19].
  • NGLY1-deficiency's symptoms and signs is recorded as seizure[20].
  • NGLY1-deficiency's symptoms and signs is recorded as strabismus[21].
  • NGLY1-deficiency's symptoms and signs is recorded as corneal ulcer[22].
  • NGLY1-deficiency's symptoms and signs is recorded as meibomian cyst[23].
  • NGLY1-deficiency's symptoms and signs is recorded as oculomotor apraxia[24].
  • NGLY1-deficiency's symptoms and signs is recorded as neonatal jaundice[25].
  • NGLY1-deficiency's symptoms and signs is recorded as abnormal facial shape[26].
  • NGLY1-deficiency's symptoms and signs is recorded as scoliosis[27].

Why It Matters

NGLY1-deficiency draws 66 Wikipedia views per month (rare_disease category, ranking #232 of 627).[2] NGLY1-deficiency is known by 17 alternative names across languages and contexts.[28]

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] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [8] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [9] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [10] ↑ . Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Retrieved . wikidata.org.
  9. [11] ↑ . Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Retrieved . wikidata.org.
  10. [12] ↑ . Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Retrieved . wikidata.org.
  11. [13] ↑ . Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Retrieved . wikidata.org.
  12. [14] ↑ . Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Retrieved . wikidata.org.
  13. [15] ↑ . Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Retrieved . wikidata.org.
  14. [16] ↑ . Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Retrieved . wikidata.org.
  15. [17] ↑ . Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Retrieved . wikidata.org.
  16. [18] ↑ . Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Retrieved . wikidata.org.
  17. [19] ↑ . Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Retrieved . wikidata.org.
  18. [20] ↑ . Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Retrieved . wikidata.org.
  19. [21] ↑ . Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Retrieved . wikidata.org.
  20. [22] ↑ . Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Retrieved . wikidata.org.
  21. [23] ↑ . Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Retrieved . wikidata.org.
  22. [24] ↑ . Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Retrieved . wikidata.org.
  23. [25] ↑ . Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Retrieved . wikidata.org.
  24. [26] ↑ . Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Retrieved . wikidata.org.
  25. [27] ↑ . Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Retrieved . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikimedia Foundation. dumps.wikimedia.org.
  2. [28] ↑ . Wikidata aliases. wikidata.org.

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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). NGLY1-deficiency. Retrieved May 3, 2026, from https://4ort.xyz/entity/ngly1-deficiency
MLA “NGLY1-deficiency.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/ngly1-deficiency.
BibTeX @misc{4ortxyz_ngly1-deficiency_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{NGLY1-deficiency}}, year = {2026}, url = {https://4ort.xyz/entity/ngly1-deficiency}, note = {Accessed: 2026-05-03}}
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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. 9w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Nci thesaurus id → C126746
    On focus list of wikimedia project → WikiProject Medicine
    Gard rare disease id → 12315
    Health specialty → medical genetics
    + 16 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39943|batch #39943]]: deprecate redundant disease superclasses"
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