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DO Term : platelet-type bleeding disorder 20 [DOID:0111055] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12.
  • synonyms:
  • BDPLT20,
  • autosomal dominant thrombocytopenia with platelet secretion defect,
  • OMIM:616913,
  • 616913,
  • ORDO:466806
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Disease

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Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents