hereditary spastic paraplegia 42

hereditary spastic paraplegia that has material basis in mutation in the SLC33A1 gene on chromosome 3q25.31

MedicalCondition rare_disease Q32143018

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Summary

hereditary spastic paraplegia 42 is a rare disease^[1]. It is known by 7 alternative names across languages and contexts.^[2]

Key Facts

Instance of: class of disease^[3]
Subclass of: hereditary spastic paraplegia^[4], autosomal dominant pure spastic paraplegia^[5], autosomal dominant disease^[6]
Health specialty: neurology^[7]
Genetic association: SLC33A1^[8]
Exact match: http://purl.obolibrary.org/obo/DOID_0110794^[9], http://identifiers.org/doid/DOID:0110794^[10], http://www.orpha.net/ORDO/Orphanet_171863^[11]
On focus list of Wikimedia project: WikiProject Medicine^[12]

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Quick Facts

Instance of rare disease, class of disease

Subclass of hereditary spastic paraplegia, autosomal dominant pure spastic paraplegia, autosomal dominant disease

Properties

Exact match purl.obolibrary.org, identifiers.org, www.orpha.net

Genetic association SLC33A1

Health specialty neurology

On focus list of wikimedia project WikiProject Medicine

External References (8)

Disease ontology id DOID:0110794

Icd-10-cm G11.4

Mesh descriptor id C567262

Mondo id MONDO_0012928

Omim id 612539

Orphanet id 171863

Umls cui C2675528

Uniprot disease id DI-01042

🏷️ Also known as

en autosomal dominant spastic paraplegia 42 en autosomal dominant spastic paraplegia type 42 en hereditary spastic paraplegia 42 en hereditary spastic paraplegia type 42 en SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT en SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT; SPG42 en SPG42

References

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

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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). hereditary spastic paraplegia 42. Retrieved May 3, 2026, from https://4ort.xyz/entity/hereditary-spastic-paraplegia-42

MLA

“hereditary spastic paraplegia 42.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/hereditary-spastic-paraplegia-42.

BibTeX

@misc{4ortxyz_hereditary-spastic-paraplegia-42_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{hereditary spastic paraplegia 42}}, year = {2026}, url = {https://4ort.xyz/entity/hereditary-spastic-paraplegia-42}, 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 42 — https://4ort.xyz/entity/hereditary-spastic-paraplegia-42 (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/hereditary-spastic-paraplegia-42 · Last refreshed: May 3, 2026

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.

14w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗

Mondo id → MONDO_0012928

Imported from → —

Umls cui → C2675528

Disease ontology id → DOID:0110794

+ 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.

hereditary spastic paraplegia 42

Summary

Key Facts

References

Direct Wikidata claims

Class ancestry

Aggregate / graph-position facts

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