autosomal recessive ataxia due to ubiquinone deficiency

This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy

MedicalCondition rare_disease Q55345821

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autosomal recessive ataxia due to ubiquinone deficiency

Summary

autosomal recessive ataxia due to ubiquinone deficiency is a rare disease^[1].

Key Facts

autosomal recessive ataxia due to ubiquinone deficiency's instance of is recorded as rare disease^[2].
autosomal recessive ataxia due to ubiquinone deficiency's instance of is recorded as class of disease^[3].
autosomal recessive ataxia due to ubiquinone deficiency's subclass of is recorded as autosomal recessive cerebellar ataxia^[4].
autosomal recessive ataxia due to ubiquinone deficiency's MeSH descriptor ID is recorded as C567436^[5].
autosomal recessive ataxia due to ubiquinone deficiency's OMIM ID is recorded as 612016^[6].
autosomal recessive ataxia due to ubiquinone deficiency's Orphanet ID is recorded as 139485^[7].
autosomal recessive ataxia due to ubiquinone deficiency's genetic association is recorded as COQ8A^[8].
autosomal recessive ataxia due to ubiquinone deficiency's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_139485^[9].
autosomal recessive ataxia due to ubiquinone deficiency's UMLS CUI is recorded as C2677589^[10].
autosomal recessive ataxia due to ubiquinone deficiency's ICD-10-CM is recorded as G11.1^[11].
autosomal recessive ataxia due to ubiquinone deficiency's Mondo ID is recorded as MONDO_0012784^[12].

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Quick Facts

Instance of rare disease, class of disease

Subclass of autosomal recessive cerebellar ataxia

Properties

Exact match www.orpha.net

Genetic association COQ8A

Imported from wholeness_audit_2026-05-02

External References (6)

Icd-10-cm G11.1

Mesh descriptor id C567436

Mondo id MONDO_0012784

Omim id 612016

Orphanet id 139485

Umls cui C2677589

References

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

Direct Wikidata claims

[2] ↑ autosomal recessive ataxia due to ubiquinone deficiency — instance of (P31): rare disease. wikidata.org.
[3] ↑ autosomal recessive ataxia due to ubiquinone deficiency — instance of (P31): class of disease. wikidata.org.
[4] ↑ autosomal recessive ataxia due to ubiquinone deficiency — subclass of (P279): autosomal recessive cerebellar ataxia. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-03. wikidata.org.
[5] ↑ autosomal recessive ataxia due to ubiquinone deficiency — MeSH descriptor ID (P486): C567436. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-03. wikidata.org.
[6] ↑ autosomal recessive ataxia due to ubiquinone deficiency — OMIM ID (P492): 612016. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-03. wikidata.org.
[7] ↑ autosomal recessive ataxia due to ubiquinone deficiency — Orphanet ID (P1550): 139485. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-03. wikidata.org.
[8] ↑ autosomal recessive ataxia due to ubiquinone deficiency — genetic association (P2293): COQ8A. ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. Retrieved 2023-08-24. platform.opentargets.org. Provenance: wikidata.org.
[9] ↑ autosomal recessive ataxia due to ubiquinone deficiency — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_139485. wikidata.org.
[10] ↑ autosomal recessive ataxia due to ubiquinone deficiency — UMLS CUI (P2892): C2677589. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-03. wikidata.org.
[11] ↑ autosomal recessive ataxia due to ubiquinone deficiency — ICD-10-CM (P4229): G11.1. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-03. wikidata.org.
[12] ↑ autosomal recessive ataxia due to ubiquinone deficiency — Mondo ID (P5270): MONDO_0012784. wikidata.org.

Class ancestry

[1] ↑ autosomal recessive ataxia due to ubiquinone deficiency is an instance of rare disease (Q929833) [P31, primary]. Wikidata. wikidata.org.

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APA

4ort.xyz Knowledge Graph. (2026). autosomal recessive ataxia due to ubiquinone deficiency. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-recessive-ataxia-due-to-ubiquinone-deficiency

MLA

“autosomal recessive ataxia due to ubiquinone deficiency.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-recessive-ataxia-due-to-ubiquinone-deficiency.

BibTeX

@misc{4ortxyz_autosomal-recessive-ataxia-due-to-ubiquinone-deficiency_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal recessive ataxia due to ubiquinone deficiency}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-recessive-ataxia-due-to-ubiquinone-deficiency}, note = {Accessed: 2026-05-03}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): autosomal recessive ataxia due to ubiquinone deficiency — https://4ort.xyz/entity/autosomal-recessive-ataxia-due-to-ubiquinone-deficiency (retrieved 2026-05-03)

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