autosomal dominant non-syndromic intellectual disability 18

autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3

MedicalCondition developmental_defect_during_embryogenesis Q50349622

Press Enter · cited answer in seconds

autosomal dominant non-syndromic intellectual disability 18

Summary

autosomal dominant non-syndromic intellectual disability 18 is a developmental defect during embryogenesis^[1].

Key Facts

autosomal dominant non-syndromic intellectual disability 18's instance of is recorded as developmental defect during embryogenesis^[2].
autosomal dominant non-syndromic intellectual disability 18's instance of is recorded as rare disease^[3].
autosomal dominant non-syndromic intellectual disability 18's instance of is recorded as class of disease^[4].
autosomal dominant non-syndromic intellectual disability 18 is a type of autosomal dominant non-syndromic intellectual disability^[5].
autosomal dominant non-syndromic intellectual disability 18 is a type of multiple congenital anomalies/dysmorphic syndrome-intellectual disability^[6].
autosomal dominant non-syndromic intellectual disability 18 is a type of genetic syndromic intellectual disability^[7].
autosomal dominant non-syndromic intellectual disability 18 is a type of syndromic intellectual disability^[8].
autosomal dominant non-syndromic intellectual disability 18's NCI Thesaurus ID is recorded as C202606^[9].
autosomal dominant non-syndromic intellectual disability 18's genetic association is recorded as GATAD2B^[10].
autosomal dominant non-syndromic intellectual disability 18's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0070048^[11].
autosomal dominant non-syndromic intellectual disability 18's exact match is recorded as http://identifiers.org/doid/DOID:0070048^[12].
autosomal dominant non-syndromic intellectual disability 18's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_363686^[13].
autosomal dominant non-syndromic intellectual disability 18's on focus list of Wikimedia project is recorded as WikiProject Medicine^[14].

⭐ Popularity Graph

0/100 long tail

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, syndromic intellectual disability, developmental defect during embryogenesis

Properties

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

Genetic association GATAD2B

Nci thesaurus id C202606

On focus list of wikimedia project WikiProject Medicine

External References (8)

Disease ontology id DOID:0070048

Gard rare disease id 12815

Google knowledge graph id /g/11j6bsww3q

Icd-10-cm Q87.8

Mondo id MONDO_0014034

Omim id 615074

Orphanet id 363686

Umls cui C3554448, C4750954

References

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

Direct Wikidata claims

[2] ↑ autosomal dominant non-syndromic intellectual disability 18 — 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 18 — instance of (P31): rare disease. wikidata.org.
[4] ↑ autosomal dominant non-syndromic intellectual disability 18 — instance of (P31): class of disease. wikidata.org.
[5] ↑ autosomal dominant non-syndromic intellectual disability 18 — subclass of (P279): autosomal dominant non-syndromic intellectual disability. Disease Ontology. Retrieved 2020-11-29. wikidata.org.
[6] ↑ autosomal dominant non-syndromic intellectual disability 18 — 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 18 — subclass of (P279): genetic syndromic intellectual disability. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[8] ↑ autosomal dominant non-syndromic intellectual disability 18 — subclass of (P279): syndromic intellectual disability. wikidata.org.
[9] ↑ autosomal dominant non-syndromic intellectual disability 18 — NCI Thesaurus ID (P1748): C202606. wikidata.org.
[10] ↑ autosomal dominant non-syndromic intellectual disability 18 — genetic association (P2293): GATAD2B. Q905695. Retrieved 2019-08-13. search.clinicalgenome.org. Provenance: wikidata.org.
[11] ↑ autosomal dominant non-syndromic intellectual disability 18 — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0070048. Disease Ontology. Retrieved 2020-11-29. wikidata.org.
[12] ↑ autosomal dominant non-syndromic intellectual disability 18 — exact match (P2888): http://identifiers.org/doid/DOID:0070048. Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
[13] ↑ autosomal dominant non-syndromic intellectual disability 18 — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_363686. wikidata.org.
[14] ↑ autosomal dominant non-syndromic intellectual disability 18 — on focus list of Wikimedia project (P5008): WikiProject Medicine. wikidata.org.

Class ancestry

[1] ↑ autosomal dominant non-syndromic intellectual disability 18 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 18. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-18

MLA

“autosomal dominant non-syndromic intellectual disability 18.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-18.

BibTeX

@misc{4ortxyz_autosomal-dominant-non-syndromic-intellectual-disability-18_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal dominant non-syndromic intellectual disability 18}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-18}, 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 18 — https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-18 (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-18 · 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.

1d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗

Mondo id → MONDO_0014034

Genetic association → GATAD2B

Gard rare disease id → 12815

Orphanet id → 363686

+ 12 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"

Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.