spinocerebellar ataxia type 40

Human disease
MedicalCondition developmental_defect_during_embryogenesis Q21097781
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spinocerebellar ataxia type 40

Summary

spinocerebellar ataxia type 40 is a developmental defect during embryogenesis[1].

Key Facts

  • spinocerebellar ataxia type 40's instance of is recorded as developmental defect during embryogenesis[2].
  • spinocerebellar ataxia type 40's instance of is recorded as rare disease[3].
  • spinocerebellar ataxia type 40's instance of is recorded as class of disease[4].
  • spinocerebellar ataxia type 40's subclass of is recorded as spinocerebellar ataxia[5].
  • spinocerebellar ataxia type 40's subclass of is recorded as autosomal dominant cerebellar ataxia type I[6].
  • spinocerebellar ataxia type 40's OMIM ID is recorded as 616053[7].
  • spinocerebellar ataxia type 40's Disease Ontology ID is recorded as DOID:0050986[8].
  • spinocerebellar ataxia type 40's Orphanet ID is recorded as 423275[9].
  • spinocerebellar ataxia type 40's genetic association is recorded as CCDC88C[10].
  • spinocerebellar ataxia type 40's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050986[11].
  • spinocerebellar ataxia type 40's exact match is recorded as http://identifiers.org/doid/DOID:0050986[12].
  • spinocerebellar ataxia type 40's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_423275[13].
  • spinocerebellar ataxia type 40's UMLS CUI is recorded as CN219009[14].
  • spinocerebellar ataxia type 40's ICD-10-CM is recorded as G11.8[15].
  • spinocerebellar ataxia type 40's GARD rare disease ID is recorded as 12371[16].
  • spinocerebellar ataxia type 40's on focus list of Wikimedia project is recorded as WikiProject Medicine[17].
  • spinocerebellar ataxia type 40's Mondo ID is recorded as MONDO_0014475[18].
  • spinocerebellar ataxia type 40's UniProt disease ID is recorded as DI-04242[19].

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] . Disease Ontology. Retrieved . wikidata.org.
  5. [6] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] . Disease Ontology. Retrieved . wikidata.org.
  7. [8] . Disease Ontology. Retrieved . wikidata.org.
  8. [9] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [10] . Q905695. Retrieved . wikidata.org.
  10. [11] . Disease Ontology. Retrieved . wikidata.org.
  11. [12] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  12. [13] . wikidata.org.
  13. [14] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  14. [15] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  15. [16] . wikidata.org.
  16. [17] . wikidata.org.
  17. [18] . wikidata.org.
  18. [19] . wikidata.org.

Class ancestry

  1. [1] . Wikidata. wikidata.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). spinocerebellar ataxia type 40. Retrieved May 3, 2026, from https://4ort.xyz/entity/spinocerebellar-ataxia-type-40
MLA “spinocerebellar ataxia type 40.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/spinocerebellar-ataxia-type-40.
BibTeX @misc{4ortxyz_spinocerebellar-ataxia-type-40_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{spinocerebellar ataxia type 40}}, year = {2026}, url = {https://4ort.xyz/entity/spinocerebellar-ataxia-type-40}, note = {Accessed: 2026-05-03}}
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