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muscular dystrophy-dystroglycanopathy

Human disease
MedicalCondition rare_disease Q18553324
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muscular dystrophy-dystroglycanopathy

Summary

muscular dystrophy-dystroglycanopathy is a rare disease[1].

Key Facts

  • muscular dystrophy-dystroglycanopathy's instance of is recorded as rare disease[2].
  • muscular dystrophy-dystroglycanopathy's instance of is recorded as class of disease[3].
  • muscular dystrophy-dystroglycanopathy is a type of congenital muscular dystrophy[4].
  • muscular dystrophy-dystroglycanopathy is a type of genetic disease[5].
  • muscular dystrophy-dystroglycanopathy is a type of autosomal recessive disease[6].
  • muscular dystrophy-dystroglycanopathy's health specialty is recorded as neurology[7].
  • muscular dystrophy-dystroglycanopathy's genetic association is recorded as POMK[8].
  • muscular dystrophy-dystroglycanopathy's genetic association is recorded as B4GAT1[9].
  • muscular dystrophy-dystroglycanopathy's genetic association is recorded as RXYLT1[10].
  • muscular dystrophy-dystroglycanopathy's genetic association is recorded as POMGNT2[11].
  • muscular dystrophy-dystroglycanopathy's genetic association is recorded as POMT2[12].
  • muscular dystrophy-dystroglycanopathy's genetic association is recorded as POMGNT1[13].
  • muscular dystrophy-dystroglycanopathy's genetic association is recorded as FKTN[14].
  • muscular dystrophy-dystroglycanopathy's genetic association is recorded as CRPPA[15].
  • muscular dystrophy-dystroglycanopathy's genetic association is recorded as GMPPB[16].
  • muscular dystrophy-dystroglycanopathy's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050588[17].
  • muscular dystrophy-dystroglycanopathy's exact match is recorded as http://identifiers.org/doid/DOID:0050588[18].
  • muscular dystrophy-dystroglycanopathy's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_370953[19].
  • muscular dystrophy-dystroglycanopathy's on focus list of Wikimedia project is recorded as WikiProject Medicine[20].

References

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

Direct Wikidata claims

  1. [2] ↑ . wikidata.org.
  2. [3] ↑ . wikidata.org.
  3. [4] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [5] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [6] ↑ . Disease Ontology. Retrieved . wikidata.org.
  6. [7] ↑ . wikidata.org.
  7. [8] ↑ . Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. wikidata.org.
  8. [9] ↑ . Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.. wikidata.org.
  9. [10] ↑ . Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. wikidata.org.
  10. [11] ↑ . Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. wikidata.org.
  11. [12] ↑ . New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. wikidata.org.
  12. [13] ↑ . Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. wikidata.org.
  13. [14] ↑ . Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. wikidata.org.
  14. [15] ↑ . ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. wikidata.org.
  15. [16] ↑ . Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. wikidata.org.
  16. [17] ↑ . Disease Ontology. Retrieved . wikidata.org.
  17. [18] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  18. [19] ↑ . wikidata.org.
  19. [20] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. 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). muscular dystrophy-dystroglycanopathy. Retrieved May 3, 2026, from https://4ort.xyz/entity/muscular-dystrophy-dystroglycanopathy
MLA “muscular dystrophy-dystroglycanopathy.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/muscular-dystrophy-dystroglycanopathy.
BibTeX @misc{4ortxyz_muscular-dystrophy-dystroglycanopathy_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{muscular dystrophy-dystroglycanopathy}}, year = {2026}, url = {https://4ort.xyz/entity/muscular-dystrophy-dystroglycanopathy}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): muscular dystrophy-dystroglycanopathy — https://4ort.xyz/entity/muscular-dystrophy-dystroglycanopathy (retrieved 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. 8w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Imported from → —
    Disease ontology id → DOID:0050588
    Health specialty → neurology
    Genetic association → POMK, B4GAT1, RXYLT1 +6
    + 9 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"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.