autosomal dominant non-syndromic intellectual disability 38

autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EEF1A2 on chromosome 20q13.33

MedicalCondition rare_disease Q50349642

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autosomal dominant non-syndromic intellectual disability 38

Summary

autosomal dominant non-syndromic intellectual disability 38 is a rare disease^[1].

Key Facts

autosomal dominant non-syndromic intellectual disability 38's instance of is recorded as rare disease^[2].
autosomal dominant non-syndromic intellectual disability 38's instance of is recorded as class of disease^[3].
autosomal dominant non-syndromic intellectual disability 38's subclass of is recorded as autosomal dominant non-syndromic intellectual disability^[4].
autosomal dominant non-syndromic intellectual disability 38's OMIM ID is recorded as 616393^[5].
autosomal dominant non-syndromic intellectual disability 38's Disease Ontology ID is recorded as DOID:0070068^[6].
autosomal dominant non-syndromic intellectual disability 38's genetic association is recorded as EEF1A2^[7].
autosomal dominant non-syndromic intellectual disability 38's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0070068^[8].
autosomal dominant non-syndromic intellectual disability 38's exact match is recorded as http://identifiers.org/doid/DOID:0070068^[9].
autosomal dominant non-syndromic intellectual disability 38's UMLS CUI is recorded as C4225343^[10].
autosomal dominant non-syndromic intellectual disability 38's on focus list of Wikimedia project is recorded as WikiProject Medicine^[11].
autosomal dominant non-syndromic intellectual disability 38's Mondo ID is recorded as MONDO_0014617^[12].
autosomal dominant non-syndromic intellectual disability 38's UniProt disease ID is recorded as DI-04443^[13].

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Quick Facts

Instance of rare disease, class of disease

Subclass of autosomal dominant non-syndromic intellectual disability

Properties

Exact match purl.obolibrary.org, identifiers.org

Genetic association EEF1A2

Imported from wholeness_audit_2026-05-02

On focus list of wikimedia project WikiProject Medicine

External References (5)

Disease ontology id DOID:0070068

Mondo id MONDO_0014617

Omim id 616393

Umls cui C4225343

Uniprot disease id DI-04443

References

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

Direct Wikidata claims

[2] ↑ autosomal dominant non-syndromic intellectual disability 38 — instance of (P31): rare disease. wikidata.org.
[3] ↑ autosomal dominant non-syndromic intellectual disability 38 — instance of (P31): class of disease. wikidata.org.
[4] ↑ autosomal dominant non-syndromic intellectual disability 38 — subclass of (P279): autosomal dominant non-syndromic intellectual disability. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[5] ↑ autosomal dominant non-syndromic intellectual disability 38 — OMIM ID (P492): 616393. Disease Ontology. Retrieved 2019-08-28. wikidata.org.
[6] ↑ autosomal dominant non-syndromic intellectual disability 38 — Disease Ontology ID (P699): DOID:0070068. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[7] ↑ autosomal dominant non-syndromic intellectual disability 38 — genetic association (P2293): EEF1A2. Q905695. Retrieved 2019-08-13. wikidata.org.
[8] ↑ autosomal dominant non-syndromic intellectual disability 38 — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0070068. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[9] ↑ autosomal dominant non-syndromic intellectual disability 38 — exact match (P2888): http://identifiers.org/doid/DOID:0070068. Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
[10] ↑ autosomal dominant non-syndromic intellectual disability 38 — UMLS CUI (P2892): C4225343. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[11] ↑ autosomal dominant non-syndromic intellectual disability 38 — on focus list of Wikimedia project (P5008): WikiProject Medicine. wikidata.org.
[12] ↑ autosomal dominant non-syndromic intellectual disability 38 — Mondo ID (P5270): MONDO_0014617. wikidata.org.
[13] ↑ autosomal dominant non-syndromic intellectual disability 38 — UniProt disease ID (P11430): DI-04443. wikidata.org.

Class ancestry

[1] ↑ autosomal dominant non-syndromic intellectual disability 38 is an instance of rare disease (Q929833) [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 38. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-38

MLA

“autosomal dominant non-syndromic intellectual disability 38.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-38.

BibTeX

@misc{4ortxyz_autosomal-dominant-non-syndromic-intellectual-disability-38_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal dominant non-syndromic intellectual disability 38}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-38}, 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 38 — https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-38 (retrieved 2026-05-03)

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