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hereditary spastic paraplegia 47

hereditary spastic paraplegia that has material basis in mutation in the AP4B1 gene on chromosome 1p13
MedicalCondition rare_disease Q32143094
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Summary

hereditary spastic paraplegia 47 is a rare disease[1]. It is known by 11 alternative names across languages and contexts.[2]

Key Facts

  • Instance of: class of disease[3]
  • Subclass of: hereditary spastic paraplegia[4], severe intellectual disability and progressive spastic paraplegia[5], autosomal recessive disease[6]
  • NCI Thesaurus ID: C164224[7]
  • Genetic association: AP4B1[8]
  • Exact match: http://purl.obolibrary.org/obo/DOID_0110799[9], http://identifiers.org/doid/DOID:0110799[10], http://www.orpha.net/ORDO/Orphanet_280763[11]
  • On focus list of Wikimedia project: WikiProject Medicine[12]

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] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [7] ↑ . wikidata.org.
  6. [8] ↑ . UniProt. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  7. [9] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [10] ↑ . Identifiers.org. ebi.ac.uk. Provenance: wikidata.org.
  9. [11] ↑ . wikidata.org.
  10. [12] ↑ . 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). hereditary spastic paraplegia 47. Retrieved May 3, 2026, from https://4ort.xyz/entity/hereditary-spastic-paraplegia-47
MLA “hereditary spastic paraplegia 47.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/hereditary-spastic-paraplegia-47.
BibTeX @misc{4ortxyz_hereditary-spastic-paraplegia-47_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{hereditary spastic paraplegia 47}}, year = {2026}, url = {https://4ort.xyz/entity/hereditary-spastic-paraplegia-47}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): hereditary spastic paraplegia 47 — https://4ort.xyz/entity/hereditary-spastic-paraplegia-47 (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. 14w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Mondo id → MONDO_0013551
    Imported from → —
    Nci thesaurus id → C164224
    Umls cui → C3279738
    + 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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