muscle-eye-brain disease

disease
MedicalCondition rare_disease Q3508572
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muscle-eye-brain disease

Summary

muscle-eye-brain disease is a rare disease[1]. It draws 9 Wikipedia views per month (rare_disease category, ranking #234 of 627).[2]

Key Facts

  • muscle-eye-brain disease's instance of is recorded as rare disease[3].
  • muscle-eye-brain disease's instance of is recorded as class of disease[4].
  • muscle-eye-brain disease's subclass of is recorded as lissencephaly[5].
  • muscle-eye-brain disease's Orphanet ID is recorded as 588[6].
  • muscle-eye-brain disease's MalaCards ID is recorded as muscle_eye_brain_disease_2[7].
  • muscle-eye-brain disease's ICD-9-CM is recorded as 742.4[8].
  • muscle-eye-brain disease's NCI Thesaurus ID is recorded as C126740[9].
  • muscle-eye-brain disease's health specialty is recorded as neurology[10].
  • muscle-eye-brain disease's genetic association is recorded as FKRP[11].
  • muscle-eye-brain disease's genetic association is recorded as LARGE1[12].
  • muscle-eye-brain disease's genetic association is recorded as POMT2[13].
  • muscle-eye-brain disease's genetic association is recorded as B3GALNT2[14].
  • muscle-eye-brain disease's genetic association is recorded as GMPPB[15].
  • muscle-eye-brain disease's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_588[16].
  • muscle-eye-brain disease's UMLS CUI is recorded as C0457133[17].
  • muscle-eye-brain disease's ICD-10-CM is recorded as Q04.3[18].
  • muscle-eye-brain disease's GARD rare disease ID is recorded as 156[19].
  • muscle-eye-brain disease's Mondo ID is recorded as MONDO_0018939[20].
  • muscle-eye-brain disease's ICD-11 ID is recorded as 1330230975[21].
  • muscle-eye-brain disease's UniProt disease ID is recorded as DI-00792[22].

Why It Matters

muscle-eye-brain disease draws 9 Wikipedia views per month (rare_disease category, ranking #234 of 627).[2] It is known by 10 alternative names across languages and contexts.[23]

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] . wikidata.org.
  4. [6] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [7] . wikidata.org.
  6. [8] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [9] . wikidata.org.
  8. [10] . wikidata.org.
  9. [11] . Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.. wikidata.org.
  10. [12] . Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.. wikidata.org.
  11. [13] . POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. wikidata.org.
  12. [14] . Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. wikidata.org.
  13. [15] . Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. wikidata.org.
  14. [16] . wikidata.org.
  15. [17] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  16. [18] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  17. [19] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  18. [20] . 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 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). muscle-eye-brain disease. Retrieved May 3, 2026, from https://4ort.xyz/entity/muscle-eye-brain-disease
MLA “muscle-eye-brain disease.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/muscle-eye-brain-disease.
BibTeX @misc{4ortxyz_muscle-eye-brain-disease_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{muscle-eye-brain disease}}, year = {2026}, url = {https://4ort.xyz/entity/muscle-eye-brain-disease}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): muscle-eye-brain disease — https://4ort.xyz/entity/muscle-eye-brain-disease (retrieved 2026-05-03)

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