Home › Entities › rare_disease › pontocerebellar hypoplasia type 2A

pontocerebellar hypoplasia type 2A

human disease
MedicalCondition rare_disease Q2195280
Press Enter · cited answer in seconds

pontocerebellar hypoplasia type 2A

Summary

pontocerebellar hypoplasia type 2A is a rare disease[1].

Key Facts

  • pontocerebellar hypoplasia type 2A's instance of is recorded as rare disease[2].
  • pontocerebellar hypoplasia type 2A's instance of is recorded as class of disease[3].
  • pontocerebellar hypoplasia type 2A is a type of non-syndromic pontocerebellar hypoplasia[4].
  • pontocerebellar hypoplasia type 2A is a type of pontocerebellar hypoplasia type 2[5].
  • pontocerebellar hypoplasia type 2A's genetic association is recorded as TSEN54[6].
  • pontocerebellar hypoplasia type 2A's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060267[7].
  • pontocerebellar hypoplasia type 2A's exact match is recorded as http://identifiers.org/doid/DOID:0060267[8].
  • pontocerebellar hypoplasia type 2A's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2524[9].
  • pontocerebellar hypoplasia type 2A's on focus list of Wikimedia project is recorded as WikiProject Medicine[10].

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] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [5] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [6] ↑ . Q905695. Retrieved . wikidata.org.
  6. [7] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [8] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  8. [9] ↑ . wikidata.org.
  9. [10] ↑ . 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). pontocerebellar hypoplasia type 2A. Retrieved May 3, 2026, from https://4ort.xyz/entity/pontocerebellar-hypoplasia-type-2a
MLA “pontocerebellar hypoplasia type 2A.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/pontocerebellar-hypoplasia-type-2a.
BibTeX @misc{4ortxyz_pontocerebellar-hypoplasia-type-2a_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{pontocerebellar hypoplasia type 2A}}, year = {2026}, url = {https://4ort.xyz/entity/pontocerebellar-hypoplasia-type-2a}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): pontocerebellar hypoplasia type 2A — https://4ort.xyz/entity/pontocerebellar-hypoplasia-type-2a (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/pontocerebellar-hypoplasia-type-2a · 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. 7w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Mondo id → MONDO_0010190
    Imported from → —
    Umls cui → C2931528, C1848526
    Disease ontology id → DOID:0060267
    + 12 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39953|batch #39953]]: deprecate redundant disease superclasses (2)"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.