autosomal dominant non-syndromic intellectual disability 7

autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13

MedicalCondition developmental_defect_during_embryogenesis Q50349611

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autosomal dominant non-syndromic intellectual disability 7

Summary

autosomal dominant non-syndromic intellectual disability 7 is a developmental defect during embryogenesis^[1].

Key Facts

autosomal dominant non-syndromic intellectual disability 7's instance of is recorded as developmental defect during embryogenesis^[2].
autosomal dominant non-syndromic intellectual disability 7's instance of is recorded as rare disease^[3].
autosomal dominant non-syndromic intellectual disability 7's instance of is recorded as class of disease^[4].
autosomal dominant non-syndromic intellectual disability 7 is a type of autosomal dominant non-syndromic intellectual disability^[5].
autosomal dominant non-syndromic intellectual disability 7 is a type of genetic syndromic intellectual disability^[6].
autosomal dominant non-syndromic intellectual disability 7 is a type of multiple congenital anomalies/dysmorphic syndrome-intellectual disability^[7].
autosomal dominant non-syndromic intellectual disability 7's NCI Thesaurus ID is recorded as C179708^[8].
autosomal dominant non-syndromic intellectual disability 7's genetic association is recorded as DYRK1A^[9].
autosomal dominant non-syndromic intellectual disability 7's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0070037^[10].
autosomal dominant non-syndromic intellectual disability 7's exact match is recorded as http://identifiers.org/doid/DOID:0070037^[11].
autosomal dominant non-syndromic intellectual disability 7's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_464306^[12].
autosomal dominant non-syndromic intellectual disability 7'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, 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 DYRK1A

Nci thesaurus id C179708

On focus list of wikimedia project WikiProject Medicine

External References (7)

Disease ontology id DOID:0070037

Gard rare disease id 13527

Mondo id MONDO_0013578

Omim id 614104

Orphanet id 464306

Umls cui C3279839

Uniprot disease id DI-03186

References

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

Direct Wikidata claims

[2] ↑ autosomal dominant non-syndromic intellectual disability 7 — 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 7 — instance of (P31): rare disease. wikidata.org.
[4] ↑ autosomal dominant non-syndromic intellectual disability 7 — instance of (P31): class of disease. wikidata.org.
[5] ↑ autosomal dominant non-syndromic intellectual disability 7 — subclass of (P279): autosomal dominant non-syndromic intellectual disability. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[6] ↑ autosomal dominant non-syndromic intellectual disability 7 — 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 disability 7 — 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 7 — NCI Thesaurus ID (P1748): C179708. wikidata.org.
[9] ↑ autosomal dominant non-syndromic intellectual disability 7 — genetic association (P2293): DYRK1A. Q905695. Retrieved 2019-08-13. platform.opentargets.org. Provenance: wikidata.org.
[10] ↑ autosomal dominant non-syndromic intellectual disability 7 — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0070037. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[11] ↑ autosomal dominant non-syndromic intellectual disability 7 — exact match (P2888): http://identifiers.org/doid/DOID:0070037. Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
[12] ↑ autosomal dominant non-syndromic intellectual disability 7 — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_464306. wikidata.org.
[13] ↑ autosomal dominant non-syndromic intellectual disability 7 — on focus list of Wikimedia project (P5008): WikiProject Medicine. wikidata.org.

Class ancestry

[1] ↑ autosomal dominant non-syndromic intellectual disability 7 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 7. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-7

MLA

“autosomal dominant non-syndromic intellectual disability 7.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-7.

BibTeX

@misc{4ortxyz_autosomal-dominant-non-syndromic-intellectual-disability-7_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal dominant non-syndromic intellectual disability 7}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-7}, 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 7 — https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-7 (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-7 · 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.

6m ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗

Mondo id → MONDO_0013578

Genetic association → DYRK1A

Gard rare disease id → 13527

Orphanet id → 464306

+ 11 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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