cardiomyopathy-hypotonia-lactic acidosis syndrome

defect in gene encoding a mitochondrial membrane transporter
MedicalCondition developmental_defect_during_embryogenesis Q55783767
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cardiomyopathy-hypotonia-lactic acidosis syndrome

Summary

cardiomyopathy-hypotonia-lactic acidosis syndrome is a developmental defect during embryogenesis[1].

Key Facts

  • cardiomyopathy-hypotonia-lactic acidosis syndrome's instance of is recorded as developmental defect during embryogenesis[2].
  • cardiomyopathy-hypotonia-lactic acidosis syndrome's instance of is recorded as rare disease[3].
  • cardiomyopathy-hypotonia-lactic acidosis syndrome's instance of is recorded as class of disease[4].
  • cardiomyopathy-hypotonia-lactic acidosis syndrome is a type of mitochondrial substrate carrier disorder[5].
  • cardiomyopathy-hypotonia-lactic acidosis syndrome is a type of mitochondrial disease with hypertrophic cardiomyopathy[6].
  • cardiomyopathy-hypotonia-lactic acidosis syndrome is a type of syndrome associated with hypertrophic cardiomyopathy[7].
  • cardiomyopathy-hypotonia-lactic acidosis syndrome's genetic association is recorded as SLC25A3[8].
  • cardiomyopathy-hypotonia-lactic acidosis syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_91130[9].

References

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

Direct Wikidata claims

  1. [2] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  2. [3] . wikidata.org.
  3. [4] . 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] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  8. [9] . wikidata.org.

Class ancestry

  1. [1] . Wikidata. wikidata.org.

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APA 4ort.xyz Knowledge Graph. (2026). cardiomyopathy-hypotonia-lactic acidosis syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/cardiomyopathy-hypotonia-lactic-acidosis-syndrome
MLA “cardiomyopathy-hypotonia-lactic acidosis syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/cardiomyopathy-hypotonia-lactic-acidosis-syndrome.
BibTeX @misc{4ortxyz_cardiomyopathy-hypotonia-lactic-acidosis-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{cardiomyopathy-hypotonia-lactic acidosis syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/cardiomyopathy-hypotonia-lactic-acidosis-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): cardiomyopathy-hypotonia-lactic acidosis syndrome — https://4ort.xyz/entity/cardiomyopathy-hypotonia-lactic-acidosis-syndrome (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/cardiomyopathy-hypotonia-lactic-acidosis-syndrome · 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. 8d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo id MONDO_0012557
    Genetic association SLC25A3
    Kegg id H01348
    Orphanet id 91130
    + 10 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39742|batch #39742]]: subclass of disease, not instance"
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