FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal dominant isolated macrothrombocytopenia 2 ID (Ontology) DOID:0060995 (Human Disease)
Definition A thrombocytopenia that is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes that has_material_basis_in heterozygous mutation in the TUBA8 gene on chromosome 22q11.
Also Known As "MACTHC2"
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 Genes
 autosomal dominant isolated macrothrombocytopenia 2       4
 for disease ribbon | autosomal dominant isolated macrothrombocytopenia 2       4
 model of | autosomal dominant isolated macrothrombocytopenia 2       4
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autosomal genetic disease
 |__autosomal dominant disease__
blood platelet disease          |
 |__thrombocytopenia____________|
                                autosomal dominant isolated macrothrombocytopenia 2  4 rec.
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Is a autosomal dominant disease
thrombocytopenia
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Synonyms
  • "MACTHC2" EXACT OMO:0003012
Secondary IDs
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MIM:619840