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pontocerebellar hypoplasia type 1B

human disease
MedicalCondition rare_disease Q18966146
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Summary

pontocerebellar hypoplasia type 1B is a rare disease[1]. It is known by 4 alternative names across languages and contexts.[2]

Key Facts

  • Instance of: class of disease[3]
  • Subclass of: non-syndromic pontocerebellar hypoplasia[4], pontocerebellar hypoplasia type 1[5]
  • NCI Thesaurus ID: C190872[6]
  • Genetic association: EXOSC3[7]
  • Exact match: http://purl.obolibrary.org/obo/DOID_0060266[8], http://identifiers.org/doid/DOID:0060266[9], http://www.orpha.net/ORDO/Orphanet_2254[10]
  • On focus list of Wikimedia project: WikiProject Medicine[11]

References

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

Direct Wikidata claims

  1. [3] ↑ . wikidata.org.
  2. [4] ↑ . Disease Ontology. Retrieved . wikidata.org.
  3. [5] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  4. [6] ↑ . wikidata.org.
  5. [7] ↑ . UniProt. Retrieved . wikidata.org.
  6. [8] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [9] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  8. [10] ↑ . wikidata.org.
  9. [11] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikidata aliases. 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 1B. Retrieved May 3, 2026, from https://4ort.xyz/entity/pontocerebellar-hypoplasia-type-1b
MLA “pontocerebellar hypoplasia type 1B.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/pontocerebellar-hypoplasia-type-1b.
BibTeX @misc{4ortxyz_pontocerebellar-hypoplasia-type-1b_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{pontocerebellar hypoplasia type 1B}}, year = {2026}, url = {https://4ort.xyz/entity/pontocerebellar-hypoplasia-type-1b}, 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 1B — https://4ort.xyz/entity/pontocerebellar-hypoplasia-type-1b (retrieved 2026-05-03)

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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. 15w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Mondo id → MONDO_0013853
    Imported from → —
    Nci thesaurus id → C190872
    Umls cui → C3553449
    + 10 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)"
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