|  Help  |  About  |  Contact Us

DO Term : autosomal dominant isolated macrothrombocytopenia 1 [DOID:0090102] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • MACTHC1,
  • ICD10CM:D69.4,
  • 613112,
  • OMIM:613112,
  • ORDO:140957
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents