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Perrault syndrome

autosomal recessive disesase that is characterized by sensorineural hearing loss and ovarian failure
MedicalCondition rare_disease Q18553517
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Perrault syndrome

Summary

Perrault syndrome is a rare disease[1].

Key Facts

  • Perrault syndrome's instance of is recorded as rare disease[2].
  • Perrault syndrome's instance of is recorded as class of disease[3].
  • Perrault syndrome's subclass of is recorded as 46 XX gonadal dysgenesis[4].
  • Perrault syndrome's subclass of is recorded as autosomal recessive disease[5].
  • Perrault syndrome's subclass of is recorded as syndrome[6].
  • Perrault syndrome's OMIM ID is recorded as 614129[7].
  • Perrault syndrome's OMIM ID is recorded as 614926[8].
  • Perrault syndrome's OMIM ID is recorded as 615300[9].
  • Perrault syndrome's OMIM ID is recorded as 233400[10].
  • Perrault syndrome's KEGG ID is recorded as H02095[11].
  • Perrault syndrome's Disease Ontology ID is recorded as DOID:0050857[12].
  • Perrault syndrome's Orphanet ID is recorded as 2855[13].
  • Perrault syndrome's genetic association is recorded as HSD17B4[14].
  • Perrault syndrome's genetic association is recorded as CLPP[15].
  • Perrault syndrome's genetic association is recorded as LARS2[16].
  • Perrault syndrome's genetic association is recorded as HARS2[17].
  • Perrault syndrome's Google Knowledge Graph ID is recorded as /g/11f3_wl7jh[18].
  • Perrault syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050857[19].
  • Perrault syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0050857[20].
  • Perrault syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2855[21].
  • Perrault syndrome's UMLS CUI is recorded as C0685838[22].
  • Perrault syndrome's GARD rare disease ID is recorded as 2542[23].
  • Perrault syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[24].
  • Perrault syndrome's Mondo ID is recorded as MONDO_0009300[25].
  • Perrault syndrome's UniProt disease ID is recorded as DI-03133[26].

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] ↑ . wikidata.org.
  4. [5] ↑ . Disease Ontology. 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] ↑ . Disease Ontology. Retrieved . wikidata.org.
  9. [10] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [11] ↑ . wikidata.org.
  11. [12] ↑ . Disease Ontology. Retrieved . wikidata.org.
  12. [13] ↑ . Disease Ontology. Retrieved . wikidata.org.
  13. [14] ↑ . Q905695. Retrieved . wikidata.org.
  14. [15] ↑ . Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. wikidata.org.
  15. [16] ↑ . Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. wikidata.org.
  16. [17] ↑ . Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. wikidata.org.
  17. [18] ↑ . wikidata.org.
  18. [19] ↑ . Disease Ontology. Retrieved . wikidata.org.
  19. [20] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  20. [21] ↑ . wikidata.org.
  21. [22] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  22. [23] ↑ . Disease Ontology. Retrieved . wikidata.org.
  23. [24] ↑ . wikidata.org.
  24. [25] ↑ . wikidata.org.
  25. [26] ↑ . 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). Perrault syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/perrault-syndrome
MLA “Perrault syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/perrault-syndrome.
BibTeX @misc{4ortxyz_perrault-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Perrault syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/perrault-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Perrault syndrome — https://4ort.xyz/entity/perrault-syndrome (retrieved 2026-05-03)

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