autosomal recessive limb-girdle muscular dystrophy type 2I

autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3
MedicalCondition rare_disease Q22965446
Press Enter · cited answer in seconds

autosomal recessive limb-girdle muscular dystrophy type 2I

Summary

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

Key Facts

  • autosomal recessive limb-girdle muscular dystrophy type 2I's instance of is recorded as rare disease[2].
  • autosomal recessive limb-girdle muscular dystrophy type 2I's instance of is recorded as class of disease[3].
  • autosomal recessive limb-girdle muscular dystrophy type 2I's subclass of is recorded as autosomal recessive limb-girdle muscular dystrophy[4].
  • autosomal recessive limb-girdle muscular dystrophy type 2I's subclass of is recorded as qualitative or quantitative defects of FKRP[5].
  • autosomal recessive limb-girdle muscular dystrophy type 2I's subclass of is recorded as disorder of O-mannosylglycan synthesis[6].
  • autosomal recessive limb-girdle muscular dystrophy type 2I's subclass of is recorded as congenital disorder of glycosylation with neurological involvement[7].
  • autosomal recessive limb-girdle muscular dystrophy type 2I's MeSH descriptor ID is recorded as C564612[8].
  • autosomal recessive limb-girdle muscular dystrophy type 2I's OMIM ID is recorded as 607155[9].
  • autosomal recessive limb-girdle muscular dystrophy type 2I's Disease Ontology ID is recorded as DOID:0110299[10].
  • autosomal recessive limb-girdle muscular dystrophy type 2I's Orphanet ID is recorded as 34515[11].
  • autosomal recessive limb-girdle muscular dystrophy type 2I's NCI Thesaurus ID is recorded as C126739[12].
  • autosomal recessive limb-girdle muscular dystrophy type 2I's health specialty is recorded as neurology[13].
  • autosomal recessive limb-girdle muscular dystrophy type 2I's genetic association is recorded as FKRP[14].
  • autosomal recessive limb-girdle muscular dystrophy type 2I's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110299[15].
  • autosomal recessive limb-girdle muscular dystrophy type 2I's exact match is recorded as http://identifiers.org/doid/DOID:0110299[16].
  • autosomal recessive limb-girdle muscular dystrophy type 2I's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_34515[17].
  • autosomal recessive limb-girdle muscular dystrophy type 2I's UMLS CUI is recorded as C1846672[18].
  • autosomal recessive limb-girdle muscular dystrophy type 2I's ICD-10-CM is recorded as G71.0[19].
  • autosomal recessive limb-girdle muscular dystrophy type 2I's GARD rare disease ID is recorded as 12533[20].
  • autosomal recessive limb-girdle muscular dystrophy type 2I's on focus list of Wikimedia project is recorded as WikiProject Medicine[21].
  • autosomal recessive limb-girdle muscular dystrophy type 2I's Mondo ID is recorded as MONDO_0011787[22].

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] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  4. [5] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [6] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [9] . Disease Ontology. Retrieved . wikidata.org.
  9. [10] . Disease Ontology. Retrieved . wikidata.org.
  10. [11] . Disease Ontology. Retrieved . wikidata.org.
  11. [12] . wikidata.org.
  12. [13] . wikidata.org.
  13. [14] . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  14. [15] . Disease Ontology. Retrieved . wikidata.org.
  15. [16] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  16. [17] . wikidata.org.
  17. [18] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  18. [19] . Disease Ontology. Retrieved . wikidata.org.
  19. [20] . wikidata.org.
  20. [21] . wikidata.org.
  21. [22] . 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 2I. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-recessive-limb-girdle-muscular-dystrophy-type-2i
MLA “autosomal recessive limb-girdle muscular dystrophy type 2I.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-recessive-limb-girdle-muscular-dystrophy-type-2i.
BibTeX @misc{4ortxyz_autosomal-recessive-limb-girdle-muscular-dystrophy-type-2i_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal recessive limb-girdle muscular dystrophy type 2I}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-recessive-limb-girdle-muscular-dystrophy-type-2i}, 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 2I — https://4ort.xyz/entity/autosomal-recessive-limb-girdle-muscular-dystrophy-type-2i (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/autosomal-recessive-limb-girdle-muscular-dystrophy-type-2i · Last refreshed: