autosomal dominant non-syndromic intellectual disability 35

autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PPP2R5D on chromosome 6p21.1

MedicalCondition developmental_defect_during_embryogenesis Q50349639

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autosomal dominant non-syndromic intellectual disability 35

Summary

autosomal dominant non-syndromic intellectual disability 35 is a developmental defect during embryogenesis^[1].

Key Facts

autosomal dominant non-syndromic intellectual disability 35's instance of is recorded as developmental defect during embryogenesis^[2].
autosomal dominant non-syndromic intellectual disability 35's instance of is recorded as rare disease^[3].
autosomal dominant non-syndromic intellectual disability 35's instance of is recorded as class of disease^[4].
autosomal dominant non-syndromic intellectual disability 35's instance of is recorded as neurodevelopmental disorder^[5].
autosomal dominant non-syndromic intellectual disability 35 is a type of autosomal dominant non-syndromic intellectual disability^[6].
autosomal dominant non-syndromic intellectual disability 35 is a type of multiple congenital anomalies/dysmorphic syndrome-intellectual disability^[7].
autosomal dominant non-syndromic intellectual disability 35 is a type of genetic syndromic intellectual disability^[8].
autosomal dominant non-syndromic intellectual disability 35's genetic association is recorded as PPP2R5D^[9].
autosomal dominant non-syndromic intellectual disability 35's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0070065^[10].
autosomal dominant non-syndromic intellectual disability 35's exact match is recorded as http://identifiers.org/doid/DOID:0070065^[11].
autosomal dominant non-syndromic intellectual disability 35's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_457279^[12].
autosomal dominant non-syndromic intellectual disability 35's on focus list of Wikimedia project is recorded as WikiProject Medicine^[13].

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Quick Facts

Instance of rare disease, class of disease

Subclass of autosomal dominant non-syndromic intellectual disability, multiple congenital anomalies/dysmorphic syndrome-intellectual disability, genetic syndromic intellectual disability, developmental defect during embryogenesis, neurodevelopmental disorder

Properties

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

Genetic association PPP2R5D

On focus list of wikimedia project WikiProject Medicine

External References (7)

Disease ontology id DOID:0070065

Mondo id MONDO_0014602

Omim id 616355

Orphanet id 457279

Uk parliament thesaurus id 550911

Umls cui C4225354

Uniprot disease id DI-04419

🌐 Available in 3 languages

enJordan's syndrome arمتلازمة جوردان deJordans-Syndrom

References

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

Direct Wikidata claims

[2] ↑ autosomal dominant non-syndromic intellectual disability 35 — instance of (P31): developmental defect during embryogenesis. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[3] ↑ autosomal dominant non-syndromic intellectual disability 35 — instance of (P31): rare disease. wikidata.org.
[4] ↑ autosomal dominant non-syndromic intellectual disability 35 — instance of (P31): class of disease. wikidata.org.
[5] ↑ autosomal dominant non-syndromic intellectual disability 35 — instance of (P31): neurodevelopmental disorder. Retrieved 2021-11-06. wikidata.org.
[6] ↑ autosomal dominant non-syndromic intellectual disability 35 — subclass of (P279): autosomal dominant non-syndromic intellectual disability. Disease Ontology. Retrieved 2020-11-29. wikidata.org.
[7] ↑ autosomal dominant non-syndromic intellectual disability 35 — subclass of (P279): multiple congenital anomalies/dysmorphic syndrome-intellectual disability. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[8] ↑ autosomal dominant non-syndromic intellectual disability 35 — subclass of (P279): genetic syndromic intellectual disability. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[9] ↑ autosomal dominant non-syndromic intellectual disability 35 — genetic association (P2293): PPP2R5D. Q905695. Retrieved 2019-08-13. wikidata.org.
[10] ↑ autosomal dominant non-syndromic intellectual disability 35 — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0070065. Disease Ontology. Retrieved 2020-11-29. wikidata.org.
[11] ↑ autosomal dominant non-syndromic intellectual disability 35 — exact match (P2888): http://identifiers.org/doid/DOID:0070065. Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
[12] ↑ autosomal dominant non-syndromic intellectual disability 35 — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_457279. wikidata.org.
[13] ↑ autosomal dominant non-syndromic intellectual disability 35 — on focus list of Wikimedia project (P5008): WikiProject Medicine. wikidata.org.

Class ancestry

[1] ↑ autosomal dominant non-syndromic intellectual disability 35 is an instance of developmental defect during embryogenesis (Q55788864) [P31, primary]. Wikidata. wikidata.org.

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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). autosomal dominant non-syndromic intellectual disability 35. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-35

MLA

“autosomal dominant non-syndromic intellectual disability 35.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-35.

BibTeX

@misc{4ortxyz_autosomal-dominant-non-syndromic-intellectual-disability-35_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal dominant non-syndromic intellectual disability 35}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-35}, note = {Accessed: 2026-05-03}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): autosomal dominant non-syndromic intellectual disability 35 — https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-35 (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-35 · 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.

12h ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗

Mondo id → MONDO_0014602

Genetic association → PPP2R5D

Uk parliament thesaurus id → 550911

Orphanet id → 457279

+ 10 other properties edited (see Wikidata diff for full list)

"/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39742|batch #39742]]: subclass of disease, not instance"

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