autosomal dominant non-syndromic intellectual disability 39

autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of MYT1L on chromosome 2p25.3

MedicalCondition rare_disease Q50349643

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autosomal dominant non-syndromic intellectual disability 39

Summary

autosomal dominant non-syndromic intellectual disability 39 is a rare disease^[1].

Key Facts

autosomal dominant non-syndromic intellectual disability 39's instance of is recorded as rare disease^[2].
autosomal dominant non-syndromic intellectual disability 39's instance of is recorded as class of disease^[3].
autosomal dominant non-syndromic intellectual disability 39's subclass of is recorded as autosomal dominant non-syndromic intellectual disability^[4].
autosomal dominant non-syndromic intellectual disability 39's OMIM ID is recorded as 616521^[5].
autosomal dominant non-syndromic intellectual disability 39's Disease Ontology ID is recorded as DOID:0070069^[6].
autosomal dominant non-syndromic intellectual disability 39's NCI Thesaurus ID is recorded as C156309^[7].
autosomal dominant non-syndromic intellectual disability 39's genetic association is recorded as MYT1L^[8].
autosomal dominant non-syndromic intellectual disability 39's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0070069^[9].
autosomal dominant non-syndromic intellectual disability 39's exact match is recorded as http://identifiers.org/doid/DOID:0070069^[10].
autosomal dominant non-syndromic intellectual disability 39's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_178469^[11].
autosomal dominant non-syndromic intellectual disability 39's UMLS CUI is recorded as C4225296^[12].
autosomal dominant non-syndromic intellectual disability 39's on focus list of Wikimedia project is recorded as WikiProject Medicine^[13].
autosomal dominant non-syndromic intellectual disability 39's Mondo ID is recorded as MONDO_0014678^[14].
autosomal dominant non-syndromic intellectual disability 39's UniProt disease ID is recorded as DI-04498^[15].

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Quick Facts

Instance of rare disease, class of disease

Subclass of autosomal dominant non-syndromic intellectual disability

Properties

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

Genetic association MYT1L

Imported from wholeness_audit_2026-05-02

Nci thesaurus id C156309

On focus list of wikimedia project WikiProject Medicine

External References (5)

Disease ontology id DOID:0070069

Mondo id MONDO_0014678

Omim id 616521

Umls cui C4225296

Uniprot disease id DI-04498

References

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

Direct Wikidata claims

[2] ↑ autosomal dominant non-syndromic intellectual disability 39 — instance of (P31): rare disease. wikidata.org.
[3] ↑ autosomal dominant non-syndromic intellectual disability 39 — instance of (P31): class of disease. wikidata.org.
[4] ↑ autosomal dominant non-syndromic intellectual disability 39 — subclass of (P279): autosomal dominant non-syndromic intellectual disability. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[5] ↑ autosomal dominant non-syndromic intellectual disability 39 — OMIM ID (P492): 616521. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-08-07. wikidata.org.
[6] ↑ autosomal dominant non-syndromic intellectual disability 39 — Disease Ontology ID (P699): DOID:0070069. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[7] ↑ autosomal dominant non-syndromic intellectual disability 39 — NCI Thesaurus ID (P1748): C156309. wikidata.org.
[8] ↑ autosomal dominant non-syndromic intellectual disability 39 — genetic association (P2293): MYT1L. Q905695. Retrieved 2019-08-13. search.clinicalgenome.org. Provenance: wikidata.org.
[9] ↑ autosomal dominant non-syndromic intellectual disability 39 — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0070069. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[10] ↑ autosomal dominant non-syndromic intellectual disability 39 — exact match (P2888): http://identifiers.org/doid/DOID:0070069. Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
[11] ↑ autosomal dominant non-syndromic intellectual disability 39 — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_178469. wikidata.org.
[12] ↑ autosomal dominant non-syndromic intellectual disability 39 — UMLS CUI (P2892): C4225296. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-08-07. wikidata.org.
[13] ↑ autosomal dominant non-syndromic intellectual disability 39 — on focus list of Wikimedia project (P5008): WikiProject Medicine. wikidata.org.
[14] ↑ autosomal dominant non-syndromic intellectual disability 39 — Mondo ID (P5270): MONDO_0014678. wikidata.org.
[15] ↑ autosomal dominant non-syndromic intellectual disability 39 — UniProt disease ID (P11430): DI-04498. wikidata.org.

Class ancestry

[1] ↑ autosomal dominant non-syndromic intellectual disability 39 is an instance of rare disease (Q929833) [P31, primary]. Wikidata. wikidata.org.

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APA

4ort.xyz Knowledge Graph. (2026). autosomal dominant non-syndromic intellectual disability 39. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-39

MLA

“autosomal dominant non-syndromic intellectual disability 39.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-39.

BibTeX

@misc{4ortxyz_autosomal-dominant-non-syndromic-intellectual-disability-39_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal dominant non-syndromic intellectual disability 39}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-39}, 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 39 — https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-39 (retrieved 2026-05-03)

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