OBO ID: DOID:0090102
Term Name: autosomal dominant macrothrombocytopenia TUBB1-related Search Ontology:
Synonyms:
Definition: A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and has_material_basis_in autosomal dominant inheritance of mutation in the tubulin beta-1 (TUBB1) gene on chromosome 20q13.3. (3)
References:
Ontology: Human Disease   ( DOID:0090102 )
OTHER autosomal dominant macrothrombocytopenia TUBB1-related PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TUBB1 Macrothrombocytopenia, isolated, 1, autosomal dominant 613112
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None