autosomal dominant macrothrombocytopenia TUBB1-related

thrombocytopenia characterized by autosomal dominant inheritance of macrothrombocytopenia with normal platelet aggregation that has material basis in mutation in the TUBB1 gene on chromosome 20q13.3
MedicalCondition rare_disease Q30990007
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autosomal dominant macrothrombocytopenia TUBB1-related

Summary

autosomal dominant macrothrombocytopenia TUBB1-related is a rare disease[1].

Key Facts

  • autosomal dominant macrothrombocytopenia TUBB1-related's instance of is recorded as rare disease[2].
  • autosomal dominant macrothrombocytopenia TUBB1-related's instance of is recorded as class of disease[3].
  • autosomal dominant macrothrombocytopenia TUBB1-related is a type of thrombocytopenia[4].
  • autosomal dominant macrothrombocytopenia TUBB1-related is a type of Inherited giant platelet disorder[5].
  • autosomal dominant macrothrombocytopenia TUBB1-related is a type of autosomal dominant disease[6].
  • autosomal dominant macrothrombocytopenia TUBB1-related's genetic association is recorded as TUBB1[7].
  • autosomal dominant macrothrombocytopenia TUBB1-related's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0090102[8].
  • autosomal dominant macrothrombocytopenia TUBB1-related's exact match is recorded as http://identifiers.org/doid/DOID:0090102[9].
  • autosomal dominant macrothrombocytopenia TUBB1-related's on focus list of Wikimedia project is recorded as WikiProject Medicine[10].

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] . Disease Ontology. Retrieved . wikidata.org.
  6. [7] . Q905695. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  7. [8] . Disease Ontology. Retrieved . wikidata.org.
  8. [9] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  9. [10] . 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). autosomal dominant macrothrombocytopenia TUBB1-related. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-dominant-macrothrombocytopenia-tubb1-related
MLA “autosomal dominant macrothrombocytopenia TUBB1-related.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-dominant-macrothrombocytopenia-tubb1-related.
BibTeX @misc{4ortxyz_autosomal-dominant-macrothrombocytopenia-tubb1-related_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal dominant macrothrombocytopenia TUBB1-related}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-dominant-macrothrombocytopenia-tubb1-related}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): autosomal dominant macrothrombocytopenia TUBB1-related — https://4ort.xyz/entity/autosomal-dominant-macrothrombocytopenia-tubb1-related (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/autosomal-dominant-macrothrombocytopenia-tubb1-related · Last refreshed:

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. 7d ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Mondo id MONDO_0013141
    Imported from
    Umls cui C2751259
    Disease ontology id DOID:0090102
    + 11 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39953|batch #39953]]: deprecate redundant disease superclasses (2)"
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