autosomal dominant isolated macrothrombocytopenia 1 Disease Ontology Browser

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Disease Ontology Browser

autosomal dominant isolated macrothrombocytopenia 1 (DOID:0090102)
Alliance: disease page
Synonyms: MACTHC1
Alt IDs: OMIM:613112, ICD10CM:D69.4, ORDO:140957
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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