congenital merosin-deficient muscular dystrophy 1A

Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting
MedicalCondition rare_disease Q5811448
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congenital merosin-deficient muscular dystrophy 1A

Summary

congenital merosin-deficient muscular dystrophy 1A is a rare disease[1].

Key Facts

  • congenital merosin-deficient muscular dystrophy 1A's instance of is recorded as rare disease[2].
  • congenital merosin-deficient muscular dystrophy 1A's instance of is recorded as class of disease[3].
  • congenital merosin-deficient muscular dystrophy 1A is a type of congenital muscular dystrophy[4].
  • congenital merosin-deficient muscular dystrophy 1A is a type of qualitative or quantitative defects of merosin[5].
  • congenital merosin-deficient muscular dystrophy 1A is a type of genetic disease[6].
  • congenital merosin-deficient muscular dystrophy 1A is a type of autosomal recessive disease[7].
  • congenital merosin-deficient muscular dystrophy 1A's NCI Thesaurus ID is recorded as C118783[8].
  • congenital merosin-deficient muscular dystrophy 1A's health specialty is recorded as neurology[9].
  • congenital merosin-deficient muscular dystrophy 1A's genetic association is recorded as LAMA2[10].
  • congenital merosin-deficient muscular dystrophy 1A's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110636[11].
  • congenital merosin-deficient muscular dystrophy 1A's exact match is recorded as http://identifiers.org/doid/DOID:0110636[12].
  • congenital merosin-deficient muscular dystrophy 1A's on focus list of Wikimedia project is recorded as WikiProject Medicine[13].

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] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [6] . Disease Ontology. Retrieved . wikidata.org.
  6. [7] . Disease Ontology. Retrieved . wikidata.org.
  7. [8] . Disease Ontology. Retrieved . wikidata.org.
  8. [9] . wikidata.org.
  9. [10] . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  10. [11] . Disease Ontology. Retrieved . wikidata.org.
  11. [12] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  12. [13] . 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). congenital merosin-deficient muscular dystrophy 1A. Retrieved May 3, 2026, from https://4ort.xyz/entity/congenital-merosin-deficient-muscular-dystrophy-1a
MLA “congenital merosin-deficient muscular dystrophy 1A.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/congenital-merosin-deficient-muscular-dystrophy-1a.
BibTeX @misc{4ortxyz_congenital-merosin-deficient-muscular-dystrophy-1a_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{congenital merosin-deficient muscular dystrophy 1A}}, year = {2026}, url = {https://4ort.xyz/entity/congenital-merosin-deficient-muscular-dystrophy-1a}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): congenital merosin-deficient muscular dystrophy 1A — https://4ort.xyz/entity/congenital-merosin-deficient-muscular-dystrophy-1a (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/congenital-merosin-deficient-muscular-dystrophy-1a · Last refreshed:

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.

  1. 2d ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Nci thesaurus id C118783
    Icd-11 id (foundation) 1693850954
    On focus list of wikimedia project WikiProject Medicine
    Health specialty neurology
    + 14 other properties edited (see Wikidata diff for full list)
    "/* wbremoveclaims-remove:1| */ [[Property:P279]]: [[Q200779]]"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.