complex cortical dysplasia with other brain malformations 1

complex cortical dysplasia with other brain malformations that has material basis in heterozygous mutation in the TUBB3 gene on chromosome 16q24.3
MedicalCondition rare_disease Q30989316
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complex cortical dysplasia with other brain malformations 1

Summary

complex cortical dysplasia with other brain malformations 1 is a rare disease[1].

Key Facts

  • complex cortical dysplasia with other brain malformations 1's instance of is recorded as rare disease[2].
  • complex cortical dysplasia with other brain malformations 1's instance of is recorded as class of disease[3].
  • complex cortical dysplasia with other brain malformations 1's subclass of is recorded as complex cortical dysplasia with other brain malformations[4].
  • complex cortical dysplasia with other brain malformations 1's subclass of is recorded as genetic disease[5].
  • complex cortical dysplasia with other brain malformations 1's OMIM ID is recorded as 614039[6].
  • complex cortical dysplasia with other brain malformations 1's Disease Ontology ID is recorded as DOID:0090137[7].
  • complex cortical dysplasia with other brain malformations 1's Orphanet ID is recorded as 300570[8].
  • complex cortical dysplasia with other brain malformations 1's health specialty is recorded as medical genetics[9].
  • complex cortical dysplasia with other brain malformations 1's genetic association is recorded as TUBB3[10].
  • complex cortical dysplasia with other brain malformations 1's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0090137[11].
  • complex cortical dysplasia with other brain malformations 1's exact match is recorded as http://identifiers.org/doid/DOID:0090137[12].
  • complex cortical dysplasia with other brain malformations 1's UMLS CUI is recorded as C3808397[13].
  • complex cortical dysplasia with other brain malformations 1's ICD-10-CM is recorded as Q04.3[14].
  • complex cortical dysplasia with other brain malformations 1's GARD rare disease ID is recorded as 13032[15].
  • complex cortical dysplasia with other brain malformations 1's on focus list of Wikimedia project is recorded as WikiProject Medicine[16].
  • complex cortical dysplasia with other brain malformations 1's Mondo ID is recorded as MONDO_0013541[17].
  • complex cortical dysplasia with other brain malformations 1's UniProt disease ID is recorded as DI-03150[18].

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] . Disease Ontology. Retrieved . wikidata.org.
  5. [6] . Disease Ontology. Retrieved . wikidata.org.
  6. [7] . Disease Ontology. Retrieved . wikidata.org.
  7. [8] . Disease Ontology. Retrieved . wikidata.org.
  8. [9] . wikidata.org.
  9. [10] . Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  10. [11] . Disease Ontology. Retrieved . wikidata.org.
  11. [12] . Identifiers.org. ebi.ac.uk. Provenance: wikidata.org.
  12. [13] . wikidata.org.
  13. [14] . Disease Ontology. Retrieved . wikidata.org.
  14. [15] . wikidata.org.
  15. [16] . wikidata.org.
  16. [17] . wikidata.org.
  17. [18] . 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). complex cortical dysplasia with other brain malformations 1. Retrieved May 3, 2026, from https://4ort.xyz/entity/complex-cortical-dysplasia-with-other-brain-malformations-1
MLA “complex cortical dysplasia with other brain malformations 1.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/complex-cortical-dysplasia-with-other-brain-malformations-1.
BibTeX @misc{4ortxyz_complex-cortical-dysplasia-with-other-brain-malformations-1_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{complex cortical dysplasia with other brain malformations 1}}, year = {2026}, url = {https://4ort.xyz/entity/complex-cortical-dysplasia-with-other-brain-malformations-1}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): complex cortical dysplasia with other brain malformations 1 — https://4ort.xyz/entity/complex-cortical-dysplasia-with-other-brain-malformations-1 (retrieved 2026-05-03)

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