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Summary Literature (0)
MIM:613112 - MACROTHROMBOCYTOPENIA, ISOLATED, 1, AUTOSOMAL DOMINANT; MACTHC1


Xenbase Genes: tubb1

Human Disease Resource: MIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013141 - obsolete autosomal dominant macrothrombocytopenia TUBB1-related
MONDO:0015372 - autosomal dominant macrothrombocytopenia
MONDO:0800047 - macrothrombocytopenia, isolated, 1, autosomal dominant

Disease Ontology (DO):
DOID:0090102 - autosomal dominant isolated macrothrombocytopenia 1