lamin A/C congenital muscular dystrophy

congenital muscular dystrophy characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the LMNA gene on chromosome 1q22

MedicalCondition rare_disease Q27835675

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lamin A/C congenital muscular dystrophy

Summary

lamin A/C congenital muscular dystrophy is a rare disease^[1].

Key Facts

lamin A/C congenital muscular dystrophy's instance of is recorded as rare disease^[2].
lamin A/C congenital muscular dystrophy's instance of is recorded as class of disease^[3].
lamin A/C congenital muscular dystrophy is a type of congenital muscular dystrophy^[4].
lamin A/C congenital muscular dystrophy is a type of genetic disease^[5].
lamin A/C congenital muscular dystrophy is a type of autosomal dominant disease^[6].
lamin A/C congenital muscular dystrophy's health specialty is recorded as neurology^[7].
lamin A/C congenital muscular dystrophy's genetic association is recorded as LMNA^[8].
lamin A/C congenital muscular dystrophy's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110640^[9].
lamin A/C congenital muscular dystrophy's exact match is recorded as http://identifiers.org/doid/DOID:0110640^[10].
lamin A/C congenital muscular dystrophy's on focus list of Wikimedia project is recorded as WikiProject Medicine^[11].

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Quick Facts

Instance of rare disease, class of disease

Subclass of congenital muscular dystrophy, genetic disease, autosomal dominant disease

Properties

Exact match purl.obolibrary.org, identifiers.org

Genetic association LMNA

Health specialty neurology

On focus list of wikimedia project WikiProject Medicine

External References (10)

Disease ontology id DOID:0110640

Gard rare disease id 12585

Genetics home reference conditions id lmna-related-congenital-muscular-dystrophy

Icd-10-cm G71.2

Mesh descriptor id C567708

Mondo id MONDO_0013178

Omim id 613205

Orphanet id 157973

Umls cui C2750785

Uniprot disease id DI-02702

🌐 Available in 3 languages

References

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

Direct Wikidata claims

[2] ↑ lamin A/C congenital muscular dystrophy — instance of (P31): rare disease. wikidata.org.
[3] ↑ lamin A/C congenital muscular dystrophy — instance of (P31): class of disease. wikidata.org.
[4] ↑ lamin A/C congenital muscular dystrophy — subclass of (P279): congenital muscular dystrophy. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[5] ↑ lamin A/C congenital muscular dystrophy — subclass of (P279): genetic disease. Disease Ontology. Retrieved 2019-05-15. wikidata.org.
[6] ↑ lamin A/C congenital muscular dystrophy — subclass of (P279): autosomal dominant disease. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[7] ↑ lamin A/C congenital muscular dystrophy — health specialty (P1995): neurology. wikidata.org.
[8] ↑ lamin A/C congenital muscular dystrophy — genetic association (P2293): LMNA. Q905695. Retrieved 2019-08-13. platform.opentargets.org. Provenance: wikidata.org.
[9] ↑ lamin A/C congenital muscular dystrophy — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0110640. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[10] ↑ lamin A/C congenital muscular dystrophy — exact match (P2888): http://identifiers.org/doid/DOID:0110640. Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
[11] ↑ lamin A/C congenital muscular dystrophy — on focus list of Wikimedia project (P5008): WikiProject Medicine. wikidata.org.

Class ancestry

[1] ↑ lamin A/C congenital muscular dystrophy is an instance of rare disease (Q929833) [P31, primary]. 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). lamin A/C congenital muscular dystrophy. Retrieved May 3, 2026, from https://4ort.xyz/entity/lamin-a-c-congenital-muscular-dystrophy

MLA

“lamin A/C congenital muscular dystrophy.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/lamin-a-c-congenital-muscular-dystrophy.

BibTeX

@misc{4ortxyz_lamin-a-c-congenital-muscular-dystrophy_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{lamin A/C congenital muscular dystrophy}}, year = {2026}, url = {https://4ort.xyz/entity/lamin-a-c-congenital-muscular-dystrophy}, note = {Accessed: 2026-05-03}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): lamin A/C congenital muscular dystrophy — https://4ort.xyz/entity/lamin-a-c-congenital-muscular-dystrophy (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/lamin-a-c-congenital-muscular-dystrophy · Last refreshed: May 3, 2026

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.

3d ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗

On focus list of wikimedia project → WikiProject Medicine

Gard rare disease id → 12585

Health specialty → neurology

Imported from → —

+ 14 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"

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