autosomal dominant non-syndromic intellectual disability 32

autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of KAT6A on chromosome 8p11.21

MedicalCondition developmental_defect_during_embryogenesis Q50349636

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autosomal dominant non-syndromic intellectual disability 32

Summary

autosomal dominant non-syndromic intellectual disability 32 is a developmental defect during embryogenesis^[1].

Key Facts

autosomal dominant non-syndromic intellectual disability 32's instance of is recorded as developmental defect during embryogenesis^[2].
autosomal dominant non-syndromic intellectual disability 32's instance of is recorded as rare disease^[3].
autosomal dominant non-syndromic intellectual disability 32's instance of is recorded as class of disease^[4].
autosomal dominant non-syndromic intellectual disability 32 is a type of autosomal dominant non-syndromic intellectual disability^[5].
autosomal dominant non-syndromic intellectual disability 32 is a type of multiple congenital anomalies/dysmorphic syndrome-intellectual disability^[6].
autosomal dominant non-syndromic intellectual disability 32 is a type of syndromic craniosynostosis^[7].
autosomal dominant non-syndromic intellectual disability 32 is a type of rare syndrome with cardiac malformations^[8].
autosomal dominant non-syndromic intellectual disability 32 is a type of genetic syndromic intellectual disability^[9].
autosomal dominant non-syndromic intellectual disability 32's genetic association is recorded as KAT6A^[10].
autosomal dominant non-syndromic intellectual disability 32's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0070062^[11].
autosomal dominant non-syndromic intellectual disability 32's exact match is recorded as http://identifiers.org/doid/DOID:0070062^[12].
autosomal dominant non-syndromic intellectual disability 32's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_457193^[13].
autosomal dominant non-syndromic intellectual disability 32's on focus list of Wikimedia project is recorded as WikiProject Medicine^[14].

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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, syndromic craniosynostosis, rare syndrome with cardiac malformations, genetic syndromic intellectual disability, developmental defect during embryogenesis

Properties

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

Genetic association KAT6A

On focus list of wikimedia project WikiProject Medicine

External References (6)

Disease ontology id DOID:0070062

Mondo id MONDO_0014558

Omim id 616268

Orphanet id 457193

Umls cui C4225396

Uniprot disease id DI-04351

🌐 Available in 3 languages

enAutosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome deArboleda-Tham-Syndrom fiKAT6A-oireyhtymä

References

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

Direct Wikidata claims

[2] ↑ autosomal dominant non-syndromic intellectual disability 32 — 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 32 — instance of (P31): rare disease. wikidata.org.
[4] ↑ autosomal dominant non-syndromic intellectual disability 32 — instance of (P31): class of disease. wikidata.org.
[5] ↑ autosomal dominant non-syndromic intellectual disability 32 — subclass of (P279): autosomal dominant non-syndromic intellectual disability. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[6] ↑ autosomal dominant non-syndromic intellectual disability 32 — subclass of (P279): multiple congenital anomalies/dysmorphic syndrome-intellectual disability. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[7] ↑ autosomal dominant non-syndromic intellectual disability 32 — subclass of (P279): syndromic craniosynostosis. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[8] ↑ autosomal dominant non-syndromic intellectual disability 32 — subclass of (P279): rare syndrome with cardiac malformations. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[9] ↑ autosomal dominant non-syndromic intellectual disability 32 — subclass of (P279): genetic syndromic intellectual disability. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[10] ↑ autosomal dominant non-syndromic intellectual disability 32 — genetic association (P2293): KAT6A. Q905695. Retrieved 2019-08-13. wikidata.org.
[11] ↑ autosomal dominant non-syndromic intellectual disability 32 — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0070062. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[12] ↑ autosomal dominant non-syndromic intellectual disability 32 — exact match (P2888): http://identifiers.org/doid/DOID:0070062. Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
[13] ↑ autosomal dominant non-syndromic intellectual disability 32 — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_457193. wikidata.org.
[14] ↑ autosomal dominant non-syndromic intellectual disability 32 — on focus list of Wikimedia project (P5008): WikiProject Medicine. wikidata.org.

Class ancestry

[1] ↑ autosomal dominant non-syndromic intellectual disability 32 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 disability 32. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-32

MLA

“autosomal dominant non-syndromic intellectual disability 32.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-32.

BibTeX

@misc{4ortxyz_autosomal-dominant-non-syndromic-intellectual-disability-32_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal dominant non-syndromic intellectual disability 32}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-32}, 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 32 — https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-32 (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-32 · 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.

18h ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗

Mondo id → MONDO_0014558

Genetic association → KAT6A

Orphanet id → 457193

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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