early-onset parkinsonism-intellectual disability syndrome

human disease

MedicalCondition rare_disease Q55782601

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early-onset parkinsonism-intellectual disability syndrome

Summary

early-onset parkinsonism-intellectual disability syndrome is a rare disease^[1].

Key Facts

early-onset parkinsonism-intellectual disability syndrome's instance of is recorded as rare disease^[2].
early-onset parkinsonism-intellectual disability syndrome's instance of is recorded as class of disease^[3].
early-onset parkinsonism-intellectual disability syndrome is a type of rare parkinsonian syndrome due to genetic neurodegenerative disease^[4].
early-onset parkinsonism-intellectual disability syndrome is a type of X-linked intellectual disability^[5].
early-onset parkinsonism-intellectual disability syndrome is a type of X-linked recessive disease^[6].
early-onset parkinsonism-intellectual disability syndrome is a type of syndrome^[7].
early-onset parkinsonism-intellectual disability syndrome's NCI Thesaurus ID is recorded as C184991^[8].
early-onset parkinsonism-intellectual disability syndrome's genetic association is recorded as RAB39B^[9].
early-onset parkinsonism-intellectual disability syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2379^[10].
early-onset parkinsonism-intellectual disability syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111781^[11].
early-onset parkinsonism-intellectual disability syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0111781^[12].

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Parkinson's disease

Quick Facts

Instance of rare disease, class of disease

Subclass of rare parkinsonian syndrome due to genetic neurodegenerative disease, X-linked intellectual disability, X-linked recessive disease, syndrome

Properties

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

Genetic association RAB39B

Nci thesaurus id C184991

External References (11)

Disease ontology id DOID:0111781

Gard rare disease id 3203

Icd-10-cm G20

Icd-11 id (foundation) 937544163

Icd-11 id (mms) LD90.1

Mesh descriptor id C537179

Mondo id MONDO_0010709

Omim id 311510

Orphanet id 2379

Umls cui C0796195

Uniprot disease id DI-04321

🌐 Available in 2 languages

enEarly-onset parkinsonism-intellectual disability syndrome ptSíndrome de parkinsonismo de início precoce com deficiência intelectual

References

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

Direct Wikidata claims

[2] ↑ early-onset parkinsonism-intellectual disability syndrome — instance of (P31): rare disease. wikidata.org.
[3] ↑ early-onset parkinsonism-intellectual disability syndrome — instance of (P31): class of disease. wikidata.org.
[4] ↑ early-onset parkinsonism-intellectual disability syndrome — subclass of (P279): rare parkinsonian syndrome due to genetic neurodegenerative disease. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[5] ↑ early-onset parkinsonism-intellectual disability syndrome — subclass of (P279): X-linked intellectual disability. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[6] ↑ early-onset parkinsonism-intellectual disability syndrome — subclass of (P279): X-linked recessive disease. Disease Ontology. Retrieved 2020-11-29. wikidata.org.
[7] ↑ early-onset parkinsonism-intellectual disability syndrome — subclass of (P279): syndrome. Disease Ontology. Retrieved 2020-11-29. wikidata.org.
[8] ↑ early-onset parkinsonism-intellectual disability syndrome — NCI Thesaurus ID (P1748): C184991. wikidata.org.
[9] ↑ early-onset parkinsonism-intellectual disability syndrome — genetic association (P2293): RAB39B. Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology. Retrieved 2020-12-09. search.clinicalgenome.org. Provenance: wikidata.org.
[10] ↑ early-onset parkinsonism-intellectual disability syndrome — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_2379. wikidata.org.
[11] ↑ early-onset parkinsonism-intellectual disability syndrome — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0111781. Disease Ontology. Retrieved 2020-11-29. wikidata.org.
[12] ↑ early-onset parkinsonism-intellectual disability syndrome — exact match (P2888): http://identifiers.org/doid/DOID:0111781. Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.

Class ancestry

[1] ↑ early-onset parkinsonism-intellectual disability syndrome is an instance of rare disease (Q929833) [P31, primary]. 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). early-onset parkinsonism-intellectual disability syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/early-onset-parkinsonism-intellectual-disability-syndrome

MLA

“early-onset parkinsonism-intellectual disability syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/early-onset-parkinsonism-intellectual-disability-syndrome.

BibTeX

@misc{4ortxyz_early-onset-parkinsonism-intellectual-disability-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{early-onset parkinsonism-intellectual disability syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/early-onset-parkinsonism-intellectual-disability-syndrome}, note = {Accessed: 2026-05-03}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): early-onset parkinsonism-intellectual disability syndrome — https://4ort.xyz/entity/early-onset-parkinsonism-intellectual-disability-syndrome (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/early-onset-parkinsonism-intellectual-disability-syndrome · 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.

4d ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗

Nci thesaurus id → C184991

Icd-11 id (foundation) → 937544163

Gard rare disease id → 3203

Imported from → —

+ 14 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.