autosomal recessive limb-girdle muscular dystrophy type 2H

autosomal recessive limb-girdle muscular dystrophy that has material basis in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q

MedicalCondition rare_disease Q27677704

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autosomal recessive limb-girdle muscular dystrophy type 2H

Summary

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

Key Facts

autosomal recessive limb-girdle muscular dystrophy type 2H's instance of is recorded as rare disease^[2].
autosomal recessive limb-girdle muscular dystrophy type 2H's instance of is recorded as class of disease^[3].
autosomal recessive limb-girdle muscular dystrophy type 2H's subclass of is recorded as autosomal recessive limb-girdle muscular dystrophy^[4].
autosomal recessive limb-girdle muscular dystrophy type 2H's subclass of is recorded as qualitative or quantitative defects of TRIM32^[5].
autosomal recessive limb-girdle muscular dystrophy type 2H's MeSH descriptor ID is recorded as C535897^[6].
autosomal recessive limb-girdle muscular dystrophy type 2H's OMIM ID is recorded as 254110^[7].
autosomal recessive limb-girdle muscular dystrophy type 2H's Disease Ontology ID is recorded as DOID:0110282^[8].
autosomal recessive limb-girdle muscular dystrophy type 2H's Orphanet ID is recorded as 1878^[9].
autosomal recessive limb-girdle muscular dystrophy type 2H's ICD-9-CM is recorded as 359.89^[10].
autosomal recessive limb-girdle muscular dystrophy type 2H's health specialty is recorded as neurology^[11].
autosomal recessive limb-girdle muscular dystrophy type 2H's genetic association is recorded as TRIM32^[12].
autosomal recessive limb-girdle muscular dystrophy type 2H's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110282^[13].
autosomal recessive limb-girdle muscular dystrophy type 2H's exact match is recorded as http://identifiers.org/doid/DOID:0110282^[14].
autosomal recessive limb-girdle muscular dystrophy type 2H's UMLS CUI is recorded as C0270968^[15].
autosomal recessive limb-girdle muscular dystrophy type 2H's ICD-10-CM is recorded as G71.0^[16].
autosomal recessive limb-girdle muscular dystrophy type 2H's GARD rare disease ID is recorded as 3844^[17].
autosomal recessive limb-girdle muscular dystrophy type 2H's on focus list of Wikimedia project is recorded as WikiProject Medicine^[18].
autosomal recessive limb-girdle muscular dystrophy type 2H's Mondo ID is recorded as MONDO_0009683^[19].

⭐ Popularity Graph

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Quick Facts

Instance of rare disease, class of disease

Subclass of autosomal recessive limb-girdle muscular dystrophy, qualitative or quantitative defects of TRIM32

Properties

Exact match purl.obolibrary.org, identifiers.org

Genetic association TRIM32

Health specialty neurology

Icd-9-cm 359.89

Imported from wholeness_audit_2026-05-02

On focus list of wikimedia project WikiProject Medicine

External References (8)

Disease ontology id DOID:0110282

Gard rare disease id 3844

Icd-10-cm G71.0

Mesh descriptor id C535897

Mondo id MONDO_0009683

Omim id 254110

Orphanet id 1878

Umls cui C0270968

References

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

Direct Wikidata claims

[2] ↑ autosomal recessive limb-girdle muscular dystrophy type 2H — instance of (P31): rare disease. wikidata.org.
[3] ↑ autosomal recessive limb-girdle muscular dystrophy type 2H — instance of (P31): class of disease. wikidata.org.
[4] ↑ autosomal recessive limb-girdle muscular dystrophy type 2H — subclass of (P279): autosomal recessive limb-girdle muscular dystrophy. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[5] ↑ autosomal recessive limb-girdle muscular dystrophy type 2H — subclass of (P279): qualitative or quantitative defects of TRIM32. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[6] ↑ autosomal recessive limb-girdle muscular dystrophy type 2H — MeSH descriptor ID (P486): C535897. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[7] ↑ autosomal recessive limb-girdle muscular dystrophy type 2H — OMIM ID (P492): 254110. Disease Ontology. Retrieved 2019-08-28. wikidata.org.
[8] ↑ autosomal recessive limb-girdle muscular dystrophy type 2H — Disease Ontology ID (P699): DOID:0110282. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[9] ↑ autosomal recessive limb-girdle muscular dystrophy type 2H — Orphanet ID (P1550): 1878. Disease Ontology. Retrieved 2019-08-28. wikidata.org.
[10] ↑ autosomal recessive limb-girdle muscular dystrophy type 2H — ICD-9-CM (P1692): 359.89. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[11] ↑ autosomal recessive limb-girdle muscular dystrophy type 2H — health specialty (P1995): neurology. wikidata.org.
[12] ↑ autosomal recessive limb-girdle muscular dystrophy type 2H — genetic association (P2293): TRIM32. Q905695. Retrieved 2019-08-13. platform.opentargets.org. Provenance: wikidata.org.
[13] ↑ autosomal recessive limb-girdle muscular dystrophy type 2H — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0110282. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[14] ↑ autosomal recessive limb-girdle muscular dystrophy type 2H — exact match (P2888): http://identifiers.org/doid/DOID:0110282. Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
[15] ↑ autosomal recessive limb-girdle muscular dystrophy type 2H — UMLS CUI (P2892): C0270968. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[16] ↑ autosomal recessive limb-girdle muscular dystrophy type 2H — ICD-10-CM (P4229): G71.0. Disease Ontology. Retrieved 2019-08-28. wikidata.org.
[17] ↑ autosomal recessive limb-girdle muscular dystrophy type 2H — GARD rare disease ID (P4317): 3844. wikidata.org.
[18] ↑ autosomal recessive limb-girdle muscular dystrophy type 2H — on focus list of Wikimedia project (P5008): WikiProject Medicine. wikidata.org.
[19] ↑ autosomal recessive limb-girdle muscular dystrophy type 2H — Mondo ID (P5270): MONDO_0009683. wikidata.org.

Class ancestry

[1] ↑ autosomal recessive limb-girdle muscular dystrophy type 2H is an instance of rare disease (Q929833) [P31, primary]. Wikidata. wikidata.org.

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APA

4ort.xyz Knowledge Graph. (2026). autosomal recessive limb-girdle muscular dystrophy type 2H. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-recessive-limb-girdle-muscular-dystrophy-type-2h

MLA

“autosomal recessive limb-girdle muscular dystrophy type 2H.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-recessive-limb-girdle-muscular-dystrophy-type-2h.

BibTeX

@misc{4ortxyz_autosomal-recessive-limb-girdle-muscular-dystrophy-type-2h_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal recessive limb-girdle muscular dystrophy type 2H}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-recessive-limb-girdle-muscular-dystrophy-type-2h}, note = {Accessed: 2026-05-03}}

LLM prompt

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