autosomal dominant non-syndromic intellectual disability 19

autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of CTNNB1 on chromosome 3p22.1

MedicalCondition developmental_defect_during_embryogenesis Q50349623

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autosomal dominant non-syndromic intellectual disability 19

Summary

autosomal dominant non-syndromic intellectual disability 19 is a developmental defect during embryogenesis^[1].

Key Facts

autosomal dominant non-syndromic intellectual disability 19's instance of is recorded as developmental defect during embryogenesis^[2].
autosomal dominant non-syndromic intellectual disability 19's instance of is recorded as rare disease^[3].
autosomal dominant non-syndromic intellectual disability 19's instance of is recorded as class of disease^[4].
autosomal dominant non-syndromic intellectual disability 19 is a type of autosomal dominant non-syndromic intellectual disability^[5].
autosomal dominant non-syndromic intellectual disability 19 is a type of multiple congenital anomalies/dysmorphic syndrome-intellectual disability^[6].
autosomal dominant non-syndromic intellectual disability 19 is a type of genetic syndromic intellectual disability^[7].
autosomal dominant non-syndromic intellectual disability 19's NCI Thesaurus ID is recorded as C176897^[8].
autosomal dominant non-syndromic intellectual disability 19's genetic association is recorded as CTNNB1^[9].
autosomal dominant non-syndromic intellectual disability 19's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0070049^[10].
autosomal dominant non-syndromic intellectual disability 19's exact match is recorded as http://identifiers.org/doid/DOID:0070049^[11].
autosomal dominant non-syndromic intellectual disability 19's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_404473^[12].
autosomal dominant non-syndromic intellectual disability 19'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, multiple congenital anomalies/dysmorphic syndrome-intellectual disability, genetic syndromic intellectual disability, developmental defect during embryogenesis

Properties

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

Genetic association CTNNB1

Nci thesaurus id C176897

On focus list of wikimedia project WikiProject Medicine

External References (7)

Disease ontology id DOID:0070049

Gard rare disease id 3505

Icd-10-cm G11.4

Mondo id MONDO_0014035

Omim id 615075

Orphanet id 404473

Umls cui C3554449, C5190576

🌐 Available in 2 languages

enSevere intellectual disability-progressive spastic diplegia syndrome arالإعاقة الذهنية الشديدة - متلازمة الشلل التشنجي التقدمي

References

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

Direct Wikidata claims

[2] ↑ autosomal dominant non-syndromic intellectual disability 19 — 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 19 — instance of (P31): rare disease. wikidata.org.
[4] ↑ autosomal dominant non-syndromic intellectual disability 19 — instance of (P31): class of disease. wikidata.org.
[5] ↑ autosomal dominant non-syndromic intellectual disability 19 — subclass of (P279): autosomal dominant non-syndromic intellectual disability. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[6] ↑ autosomal dominant non-syndromic intellectual disability 19 — 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 19 — 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 19 — NCI Thesaurus ID (P1748): C176897. wikidata.org.
[9] ↑ autosomal dominant non-syndromic intellectual disability 19 — genetic association (P2293): CTNNB1. Q905695. Retrieved 2019-08-13. search.clinicalgenome.org. Provenance: wikidata.org.
[10] ↑ autosomal dominant non-syndromic intellectual disability 19 — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0070049. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[11] ↑ autosomal dominant non-syndromic intellectual disability 19 — exact match (P2888): http://identifiers.org/doid/DOID:0070049. Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
[12] ↑ autosomal dominant non-syndromic intellectual disability 19 — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_404473. wikidata.org.
[13] ↑ autosomal dominant non-syndromic intellectual disability 19 — on focus list of Wikimedia project (P5008): WikiProject Medicine. wikidata.org.

Class ancestry

[1] ↑ autosomal dominant non-syndromic intellectual disability 19 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 19. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-19

MLA

“autosomal dominant non-syndromic intellectual disability 19.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-19.

BibTeX

@misc{4ortxyz_autosomal-dominant-non-syndromic-intellectual-disability-19_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal dominant non-syndromic intellectual disability 19}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-19}, 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 19 — https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-19 (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-19 · 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_0014035

Genetic association → CTNNB1

Gard rare disease id → 3505

Orphanet id → 404473

+ 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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