autosomal recessive limb-girdle muscular dystrophy type 2U

autosomal recessive limb-girdle muscular dystrophy that hhas material basis in homozygous mutation in the ISPD gene on chromosome 7p21
MedicalCondition rare_disease Q27677714
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autosomal recessive limb-girdle muscular dystrophy type 2U

Summary

autosomal recessive limb-girdle muscular dystrophy type 2U is a rare disease[1].

Key Facts

  • autosomal recessive limb-girdle muscular dystrophy type 2U's instance of is recorded as rare disease[2].
  • autosomal recessive limb-girdle muscular dystrophy type 2U's instance of is recorded as class of disease[3].
  • autosomal recessive limb-girdle muscular dystrophy type 2U's subclass of is recorded as autosomal recessive limb-girdle muscular dystrophy[4].
  • autosomal recessive limb-girdle muscular dystrophy type 2U's OMIM ID is recorded as 616052[5].
  • autosomal recessive limb-girdle muscular dystrophy type 2U's Disease Ontology ID is recorded as DOID:0110295[6].
  • autosomal recessive limb-girdle muscular dystrophy type 2U's Orphanet ID is recorded as 352479[7].
  • autosomal recessive limb-girdle muscular dystrophy type 2U's health specialty is recorded as neurology[8].
  • autosomal recessive limb-girdle muscular dystrophy type 2U's genetic association is recorded as CRPPA[9].
  • autosomal recessive limb-girdle muscular dystrophy type 2U's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110295[10].
  • autosomal recessive limb-girdle muscular dystrophy type 2U's exact match is recorded as http://identifiers.org/doid/DOID:0110295[11].
  • autosomal recessive limb-girdle muscular dystrophy type 2U's UMLS CUI is recorded as C5190987[12].
  • autosomal recessive limb-girdle muscular dystrophy type 2U's ICD-10-CM is recorded as G71.0[13].
  • autosomal recessive limb-girdle muscular dystrophy type 2U's on focus list of Wikimedia project is recorded as WikiProject Medicine[14].
  • autosomal recessive limb-girdle muscular dystrophy type 2U's Mondo ID is recorded as MONDO_0014474[15].
  • autosomal recessive limb-girdle muscular dystrophy type 2U's UniProt disease ID is recorded as DI-04245[16].

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] . Disease Ontology. Retrieved . wikidata.org.
  7. [8] . wikidata.org.
  8. [9] . Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  9. [10] . Disease Ontology. Retrieved . wikidata.org.
  10. [11] . Identifiers.org. ebi.ac.uk. Provenance: wikidata.org.
  11. [12] . UMLS 2023. Retrieved . wikidata.org.
  12. [13] . Disease Ontology. Retrieved . wikidata.org.
  13. [14] . wikidata.org.
  14. [15] . wikidata.org.
  15. [16] . 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). autosomal recessive limb-girdle muscular dystrophy type 2U. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-recessive-limb-girdle-muscular-dystrophy-type-2u
MLA “autosomal recessive limb-girdle muscular dystrophy type 2U.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-recessive-limb-girdle-muscular-dystrophy-type-2u.
BibTeX @misc{4ortxyz_autosomal-recessive-limb-girdle-muscular-dystrophy-type-2u_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal recessive limb-girdle muscular dystrophy type 2U}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-recessive-limb-girdle-muscular-dystrophy-type-2u}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): autosomal recessive limb-girdle muscular dystrophy type 2U — https://4ort.xyz/entity/autosomal-recessive-limb-girdle-muscular-dystrophy-type-2u (retrieved 2026-05-03)

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