intellectual disability-strabismus syndrome

human disease

MedicalCondition rare_disease Q55784612

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Summary

intellectual disability-strabismus syndrome is a rare disease^[1].

Key Facts

intellectual disability-strabismus syndrome's instance of is recorded as rare disease^[2].
intellectual disability-strabismus syndrome's instance of is recorded as class of disease^[3].
intellectual disability-strabismus syndrome's subclass of is recorded as syndrome with a symptomatic strabismus^[4].
intellectual disability-strabismus syndrome's subclass of is recorded as genetic syndromic intellectual disability^[5].
intellectual disability-strabismus syndrome's OMIM ID is recorded as 615286^[6].
intellectual disability-strabismus syndrome's Orphanet ID is recorded as 363528^[7].
intellectual disability-strabismus syndrome's NCI Thesaurus ID is recorded as C186789^[8].
intellectual disability-strabismus syndrome's genetic association is recorded as ADAT3^[9].
intellectual disability-strabismus syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_363528^[10].
intellectual disability-strabismus syndrome's UMLS CUI is recorded as C3809039^[11].
intellectual disability-strabismus syndrome's UMLS CUI is recorded as C4750838^[12].
intellectual disability-strabismus syndrome's ICD-10-CM is recorded as H50.8^[13].
intellectual disability-strabismus syndrome's Mondo ID is recorded as MONDO_0014119^[14].

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Quick Facts

Instance of rare disease, class of disease

Subclass of syndrome with a symptomatic strabismus, genetic syndromic intellectual disability

Properties

Exact match www.orpha.net

Genetic association ADAT3

Imported from wholeness_audit_2026-05-02

Nci thesaurus id C186789

External References (5)

Icd-10-cm H50.8

Mondo id MONDO_0014119

Omim id 615286

Orphanet id 363528

Umls cui C3809039, C4750838

🏷️ Also known as

en intellectual disability-strabismus syndrome en MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 en MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36 en Mental Retardation, Autosomal Recessive type 36 en MRT36 en neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies

References

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

Direct Wikidata claims

[2] ↑ intellectual disability-strabismus syndrome — instance of (P31): rare disease. wikidata.org.
[3] ↑ intellectual disability-strabismus syndrome — instance of (P31): class of disease. wikidata.org.
[4] ↑ intellectual disability-strabismus syndrome — subclass of (P279): syndrome with a symptomatic strabismus. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[5] ↑ intellectual disability-strabismus syndrome — subclass of (P279): genetic syndromic intellectual disability. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[6] ↑ intellectual disability-strabismus syndrome — OMIM ID (P492): 615286. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[7] ↑ intellectual disability-strabismus syndrome — Orphanet ID (P1550): 363528. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[8] ↑ intellectual disability-strabismus syndrome — NCI Thesaurus ID (P1748): C186789. wikidata.org.
[9] ↑ intellectual disability-strabismus syndrome — genetic association (P2293): ADAT3. Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.. wikidata.org.
[10] ↑ intellectual disability-strabismus syndrome — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_363528. wikidata.org.
[11] ↑ intellectual disability-strabismus syndrome — UMLS CUI (P2892): C3809039. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[12] ↑ intellectual disability-strabismus syndrome — UMLS CUI (P2892): C4750838. UMLS 2023. Retrieved 2023-06-16. wikidata.org.
[13] ↑ intellectual disability-strabismus syndrome — ICD-10-CM (P4229): H50.8. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[14] ↑ intellectual disability-strabismus syndrome — Mondo ID (P5270): MONDO_0014119. wikidata.org.

Class ancestry

[1] ↑ intellectual disability-strabismus syndrome is an instance of rare disease (Q929833) [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). intellectual disability-strabismus syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/intellectual-disability-strabismus-syndrome

MLA

“intellectual disability-strabismus syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/intellectual-disability-strabismus-syndrome.

BibTeX

@misc{4ortxyz_intellectual-disability-strabismus-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{intellectual disability-strabismus syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/intellectual-disability-strabismus-syndrome}, note = {Accessed: 2026-05-03}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): intellectual disability-strabismus syndrome — https://4ort.xyz/entity/intellectual-disability-strabismus-syndrome (retrieved 2026-05-03)

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