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nemaline myopathy 7

nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has material basis in homozygous mutation in the CFL2 gene on chromosome 14q13
MedicalCondition rare_disease Q32144919
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nemaline myopathy 7

Summary

nemaline myopathy 7 is a rare disease[1]. It is known by 5 alternative names across languages and contexts.[2]

Key Facts

  • nemaline myopathy 7's instance of is recorded as rare disease[3].
  • nemaline myopathy 7's instance of is recorded as class of disease[4].
  • nemaline myopathy 7 is a type of nemaline myopathy[5].
  • nemaline myopathy 7 is a type of genetic disease[6].
  • nemaline myopathy 7 is a type of autosomal recessive disease[7].
  • nemaline myopathy 7's genetic association is recorded as CFL2[8].
  • nemaline myopathy 7's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110934[9].
  • nemaline myopathy 7's exact match is recorded as http://identifiers.org/doid/DOID:0110934[10].
  • nemaline myopathy 7's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_607[11].
  • nemaline myopathy 7's on focus list of Wikimedia project is recorded as WikiProject Medicine[12].

Why It Matters

nemaline myopathy 7 is known by 5 alternative names across languages and contexts.[2]

References

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

Direct Wikidata claims

  1. [3] ↑ . wikidata.org.
  2. [4] ↑ . wikidata.org.
  3. [5] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [6] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [7] ↑ . Disease Ontology. Retrieved . wikidata.org.
  6. [8] ↑ . Q905695. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  7. [9] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [10] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  9. [11] ↑ . wikidata.org.
  10. [12] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikidata aliases. 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). nemaline myopathy 7. Retrieved May 3, 2026, from https://4ort.xyz/entity/nemaline-myopathy-7
MLA “nemaline myopathy 7.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/nemaline-myopathy-7.
BibTeX @misc{4ortxyz_nemaline-myopathy-7_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{nemaline myopathy 7}}, year = {2026}, url = {https://4ort.xyz/entity/nemaline-myopathy-7}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): nemaline myopathy 7 — https://4ort.xyz/entity/nemaline-myopathy-7 (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/nemaline-myopathy-7 · 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. 11w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Mondo id → MONDO_0012538
    Imported from → —
    Umls cui → C1853154
    Disease ontology id → DOID:0110934
    + 9 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"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.