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autosomal recessive limb-girdle muscular dystrophy type 2T

autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21
MedicalCondition rare_disease Q27677713
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autosomal recessive limb-girdle muscular dystrophy type 2T

Summary

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

Key Facts

  • autosomal recessive limb-girdle muscular dystrophy type 2T's instance of is recorded as rare disease[2].
  • autosomal recessive limb-girdle muscular dystrophy type 2T's instance of is recorded as class of disease[3].
  • autosomal recessive limb-girdle muscular dystrophy type 2T's subclass of is recorded as autosomal recessive limb-girdle muscular dystrophy[4].
  • autosomal recessive limb-girdle muscular dystrophy type 2T's subclass of is recorded as disorder of O-mannosylglycan synthesis[5].
  • autosomal recessive limb-girdle muscular dystrophy type 2T's subclass of is recorded as non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature[6].
  • autosomal recessive limb-girdle muscular dystrophy type 2T's OMIM ID is recorded as 615352[7].
  • autosomal recessive limb-girdle muscular dystrophy type 2T's Disease Ontology ID is recorded as DOID:0110294[8].
  • autosomal recessive limb-girdle muscular dystrophy type 2T's Orphanet ID is recorded as 363623[9].
  • autosomal recessive limb-girdle muscular dystrophy type 2T's health specialty is recorded as neurology[10].
  • autosomal recessive limb-girdle muscular dystrophy type 2T's genetic association is recorded as GMPPB[11].
  • autosomal recessive limb-girdle muscular dystrophy type 2T's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110294[12].
  • autosomal recessive limb-girdle muscular dystrophy type 2T's exact match is recorded as http://identifiers.org/doid/DOID:0110294[13].
  • autosomal recessive limb-girdle muscular dystrophy type 2T's UMLS CUI is recorded as C3714932[14].
  • autosomal recessive limb-girdle muscular dystrophy type 2T's UMLS CUI is recorded as C4518000[15].
  • autosomal recessive limb-girdle muscular dystrophy type 2T's ICD-10-CM is recorded as G71.0[16].
  • autosomal recessive limb-girdle muscular dystrophy type 2T's ICD-10-CM is recorded as G71.2[17].
  • autosomal recessive limb-girdle muscular dystrophy type 2T's on focus list of Wikimedia project is recorded as WikiProject Medicine[18].
  • autosomal recessive limb-girdle muscular dystrophy type 2T's Mondo ID is recorded as MONDO_0014142[19].
  • autosomal recessive limb-girdle muscular dystrophy type 2T's UniProt disease ID is recorded as DI-03848[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] ↑ . 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] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [8] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [9] ↑ . Disease Ontology. Retrieved . wikidata.org.
  9. [10] ↑ . wikidata.org.
  10. [11] ↑ . Q905695. Retrieved . wikidata.org.
  11. [12] ↑ . Disease Ontology. Retrieved . wikidata.org.
  12. [13] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  13. [14] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  14. [15] ↑ . UMLS 2023. Retrieved . wikidata.org.
  15. [16] ↑ . Disease Ontology. Retrieved . wikidata.org.
  16. [17] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  17. [18] ↑ . wikidata.org.
  18. [19] ↑ . wikidata.org.
  19. [20] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. 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). autosomal recessive limb-girdle muscular dystrophy type 2T. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-recessive-limb-girdle-muscular-dystrophy-type-2t
MLA “autosomal recessive limb-girdle muscular dystrophy type 2T.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-recessive-limb-girdle-muscular-dystrophy-type-2t.
BibTeX @misc{4ortxyz_autosomal-recessive-limb-girdle-muscular-dystrophy-type-2t_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal recessive limb-girdle muscular dystrophy type 2T}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-recessive-limb-girdle-muscular-dystrophy-type-2t}, note = {Accessed: 2026-05-03}}
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