macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

human disease
MedicalCondition developmental_defect_during_embryogenesis Q55784953
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macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Summary

macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome is a developmental defect during embryogenesis[1].

Key Facts

  • macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome's instance of is recorded as developmental defect during embryogenesis[2].
  • macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome's instance of is recorded as rare disease[3].
  • macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome's instance of is recorded as class of disease[4].
  • macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome is a type of multiple congenital anomalies/dysmorphic syndrome-intellectual disability[5].
  • macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome is a type of genetic syndromic intellectual disability[6].
  • macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome's genetic association is recorded as MTOR[7].
  • macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_457485[8].

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] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [6] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] . Q905695. Retrieved . wikidata.org.
  7. [8] . wikidata.org.

Class ancestry

  1. [1] . Wikidata. wikidata.org.

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APA 4ort.xyz Knowledge Graph. (2026). macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/macrocephaly-intellectual-disability-neurodevelopmental-disorder-small-thorax-syndrome
MLA “macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/macrocephaly-intellectual-disability-neurodevelopmental-disorder-small-thorax-syndrome.
BibTeX @misc{4ortxyz_macrocephaly-intellectual-disability-neurodevelopmental-disorder-small-thorax-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/macrocephaly-intellectual-disability-neurodevelopmental-disorder-small-thorax-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome — https://4ort.xyz/entity/macrocephaly-intellectual-disability-neurodevelopmental-disorder-small-thorax-syndrome (retrieved 2026-05-03)

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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.

  1. 2d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo id MONDO_0014716
    Genetic association MTOR
    Kegg id H01928
    Orphanet id 457485
    + 9 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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