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autosomal dominant non-syndromic intellectual disability44

autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of TRIO on chromosome 5p15.2
MedicalCondition developmental_defect_during_embryogenesis Q50349648
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autosomal dominant non-syndromic intellectual disability44

Summary

autosomal dominant non-syndromic intellectual disability44 is a developmental defect during embryogenesis[1].

Key Facts

  • autosomal dominant non-syndromic intellectual disability44's instance of is recorded as developmental defect during embryogenesis[2].
  • autosomal dominant non-syndromic intellectual disability44's instance of is recorded as rare disease[3].
  • autosomal dominant non-syndromic intellectual disability44's instance of is recorded as class of disease[4].
  • autosomal dominant non-syndromic intellectual disability44's subclass of is recorded as autosomal dominant non-syndromic intellectual disability[5].
  • autosomal dominant non-syndromic intellectual disability44's subclass of is recorded as genetic syndromic intellectual disability[6].
  • autosomal dominant non-syndromic intellectual disability44's subclass of is recorded as multiple congenital anomalies/dysmorphic syndrome-intellectual disability[7].
  • autosomal dominant non-syndromic intellectual disability44's OMIM ID is recorded as 617061[8].
  • autosomal dominant non-syndromic intellectual disability44's Disease Ontology ID is recorded as DOID:0070074[9].
  • autosomal dominant non-syndromic intellectual disability44's Orphanet ID is recorded as 476126[10].
  • autosomal dominant non-syndromic intellectual disability44's genetic association is recorded as TRIO[11].
  • autosomal dominant non-syndromic intellectual disability44's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0070074[12].
  • autosomal dominant non-syndromic intellectual disability44's exact match is recorded as http://identifiers.org/doid/DOID:0070074[13].
  • autosomal dominant non-syndromic intellectual disability44's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_476126[14].
  • autosomal dominant non-syndromic intellectual disability44's UMLS CUI is recorded as C4310740[15].
  • autosomal dominant non-syndromic intellectual disability44's UMLS CUI is recorded as C5568801[16].
  • autosomal dominant non-syndromic intellectual disability44's on focus list of Wikimedia project is recorded as WikiProject Medicine[17].
  • autosomal dominant non-syndromic intellectual disability44's Mondo ID is recorded as MONDO_0014892[18].
  • autosomal dominant non-syndromic intellectual disability44's UniProt disease ID is recorded as DI-04798[19].

References

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

Direct Wikidata claims

  1. [2] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  2. [3] ↑ . wikidata.org.
  3. [4] ↑ . wikidata.org.
  4. [5] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [6] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [9] ↑ . Disease Ontology. Retrieved . wikidata.org.
  9. [10] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [11] ↑ . Q905695. Retrieved . wikidata.org.
  11. [12] ↑ . Disease Ontology. Retrieved . wikidata.org.
  12. [13] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  13. [14] ↑ . wikidata.org.
  14. [15] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  15. [16] ↑ . UMLS 2023. Retrieved . wikidata.org.
  16. [17] ↑ . wikidata.org.
  17. [18] ↑ . wikidata.org.
  18. [19] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . 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 disability44. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability44
MLA “autosomal dominant non-syndromic intellectual disability44.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability44.
BibTeX @misc{4ortxyz_autosomal-dominant-non-syndromic-intellectual-disability44_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal dominant non-syndromic intellectual disability44}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability44}, note = {Accessed: 2026-05-03}}
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