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mental retardation, autosomal dominant 20

autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of MEF2C on chromosome 5q14.3
MedicalCondition rare_disease Q50349624
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Summary

mental retardation, autosomal dominant 20 is a rare disease[1].

Key Facts

  • mental retardation, autosomal dominant 20's instance of is recorded as rare disease[2].
  • mental retardation, autosomal dominant 20's instance of is recorded as class of disease[3].
  • mental retardation, autosomal dominant 20's subclass of is recorded as autosomal dominant non-syndromic intellectual disability[4].
  • mental retardation, autosomal dominant 20's said to be the same as is recorded as 5q14.3 microdeletion syndrome[5].
  • mental retardation, autosomal dominant 20's OMIM ID is recorded as 613443[6].
  • mental retardation, autosomal dominant 20's KEGG ID is recorded as H01223[7].
  • mental retardation, autosomal dominant 20's Disease Ontology ID is recorded as DOID:0070050[8].
  • mental retardation, autosomal dominant 20's genetic association is recorded as MEF2C[9].
  • mental retardation, autosomal dominant 20's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0070050[10].
  • mental retardation, autosomal dominant 20's exact match is recorded as http://identifiers.org/doid/DOID:0070050[11].
  • mental retardation, autosomal dominant 20's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_228384[12].
  • mental retardation, autosomal dominant 20's UMLS CUI is recorded as C3150700[13].
  • mental retardation, autosomal dominant 20's on focus list of Wikimedia project is recorded as WikiProject Medicine[14].
  • mental retardation, autosomal dominant 20's Mondo ID is recorded as MONDO_0013266[15].

References

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

Direct Wikidata claims

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

Class ancestry

  1. [1] ↑ . 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). mental retardation, autosomal dominant 20. Retrieved May 3, 2026, from https://4ort.xyz/entity/mental-retardation-autosomal-dominant-20
MLA “mental retardation, autosomal dominant 20.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/mental-retardation-autosomal-dominant-20.
BibTeX @misc{4ortxyz_mental-retardation-autosomal-dominant-20_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{mental retardation, autosomal dominant 20}}, year = {2026}, url = {https://4ort.xyz/entity/mental-retardation-autosomal-dominant-20}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): mental retardation, autosomal dominant 20 — https://4ort.xyz/entity/mental-retardation-autosomal-dominant-20 (retrieved 2026-05-03)

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