cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

medical condition
MedicalCondition rare_disease Q55345761
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cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

Summary

cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome is a rare disease[1]. It draws 4 Wikipedia views per month (rare_disease category, ranking #235 of 627).[2]

Key Facts

  • cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome's instance of is recorded as rare disease[3].
  • cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome's instance of is recorded as class of disease[4].
  • cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome's subclass of is recorded as autosomal dominant optic atrophy plus syndrome[5].
  • cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome's subclass of is recorded as autosomal dominant cerebellar ataxia type I[6].
  • cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome's MeSH descriptor ID is recorded as C535351[7].
  • cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome's OMIM ID is recorded as 601338[8].
  • cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome's KEGG ID is recorded as H02272[9].
  • cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome's Orphanet ID is recorded as 1171[10].
  • cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome's genetic association is recorded as ATP1A3[11].
  • cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1171[12].
  • cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome's UMLS CUI is recorded as C1832466[13].
  • cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome's Mondo ID is recorded as MONDO_0011038[14].
  • cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome's UniProt disease ID is recorded as DI-04236[15].

Why It Matters

cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome draws 4 Wikipedia views per month (rare_disease category, ranking #235 of 627).[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] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  4. [6] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [7] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [8] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [9] . wikidata.org.
  8. [10] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [11] . A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  10. [12] . wikidata.org.
  11. [13] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  12. [14] . wikidata.org.
  13. [15] . wikidata.org.

Class ancestry

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

Aggregate / graph-position facts

  1. [2] . Wikimedia Foundation. dumps.wikimedia.org.

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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). cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/cerebellar-ataxia-areflexia-pes-cavus-optic-atrophy-sensorineural-hearing-loss-syndrome
MLA “cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/cerebellar-ataxia-areflexia-pes-cavus-optic-atrophy-sensorineural-hearing-loss-syndrome.
BibTeX @misc{4ortxyz_cerebellar-ataxia-areflexia-pes-cavus-optic-atrophy-sensorineural-hearing-loss-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/cerebellar-ataxia-areflexia-pes-cavus-optic-atrophy-sensorineural-hearing-loss-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome — https://4ort.xyz/entity/cerebellar-ataxia-areflexia-pes-cavus-optic-atrophy-sensorineural-hearing-loss-syndrome (retrieved 2026-05-03)

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