autosomal dominant non-syndromic intellectual disability44

autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of TRIO on chromosome 5p15.2

MedicalCondition developmental_defect_during_embryogenesis Q50349648

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autosomal dominant non-syndromic intellectual disability44

Summary

autosomal dominant non-syndromic intellectual disability44 is a developmental defect during embryogenesis^[1].

Key Facts

autosomal dominant non-syndromic intellectual disability44's instance of is recorded as developmental defect during embryogenesis^[2].
autosomal dominant non-syndromic intellectual disability44's instance of is recorded as rare disease^[3].
autosomal dominant non-syndromic intellectual disability44's instance of is recorded as class of disease^[4].
autosomal dominant non-syndromic intellectual disability44 is a type of autosomal dominant non-syndromic intellectual disability^[5].
autosomal dominant non-syndromic intellectual disability44 is a type of genetic syndromic intellectual disability^[6].
autosomal dominant non-syndromic intellectual disability44 is a type of multiple congenital anomalies/dysmorphic syndrome-intellectual disability^[7].
autosomal dominant non-syndromic intellectual disability44's genetic association is recorded as TRIO^[8].
autosomal dominant non-syndromic intellectual disability44's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0070074^[9].
autosomal dominant non-syndromic intellectual disability44's exact match is recorded as http://identifiers.org/doid/DOID:0070074^[10].
autosomal dominant non-syndromic intellectual disability44's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_476126^[11].
autosomal dominant non-syndromic intellectual disability44's on focus list of Wikimedia project is recorded as WikiProject Medicine^[12].

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Quick Facts

Instance of rare disease, class of disease

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

Properties

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

Genetic association TRIO

On focus list of wikimedia project WikiProject Medicine

External References (6)

Disease ontology id DOID:0070074

Mondo id MONDO_0014892

Omim id 617061

Orphanet id 476126

Umls cui C4310740, C5568801

Uniprot disease id DI-04798

References

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

Direct Wikidata claims

[2] ↑ autosomal dominant non-syndromic intellectual disability44 — 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 disability44 — instance of (P31): rare disease. wikidata.org.
[4] ↑ autosomal dominant non-syndromic intellectual disability44 — instance of (P31): class of disease. wikidata.org.
[5] ↑ autosomal dominant non-syndromic intellectual disability44 — subclass of (P279): autosomal dominant non-syndromic intellectual disability. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[6] ↑ autosomal dominant non-syndromic intellectual disability44 — subclass of (P279): genetic syndromic intellectual disability. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[7] ↑ autosomal dominant non-syndromic intellectual disability44 — 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 disability44 — genetic association (P2293): TRIO. Q905695. Retrieved 2019-08-13. wikidata.org.
[9] ↑ autosomal dominant non-syndromic intellectual disability44 — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0070074. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[10] ↑ autosomal dominant non-syndromic intellectual disability44 — exact match (P2888): http://identifiers.org/doid/DOID:0070074. Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
[11] ↑ autosomal dominant non-syndromic intellectual disability44 — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_476126. wikidata.org.
[12] ↑ autosomal dominant non-syndromic intellectual disability44 — on focus list of Wikimedia project (P5008): WikiProject Medicine. wikidata.org.

Class ancestry

[1] ↑ autosomal dominant non-syndromic intellectual disability44 is an instance of developmental defect during embryogenesis (Q55788864) [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). autosomal dominant non-syndromic intellectual disability44. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability44

MLA

“autosomal dominant non-syndromic intellectual disability44.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability44.

BibTeX

@misc{4ortxyz_autosomal-dominant-non-syndromic-intellectual-disability44_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal dominant non-syndromic intellectual disability44}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability44}, 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 disability44 — https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability44 (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability44 · 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.

2d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗

Mondo id → MONDO_0014892

Genetic association → TRIO

Orphanet id → 476126

Instance of → developmental defect during embryogenesis, rare disease, class of disease

+ 9 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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