platelet-type bleeding disorder 19

Term ID

DOID:0111048

Synonyms

• BDPLT19
• severe autosomal recessive macrothrombocytopenia

Definition

A blood platelet disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has_material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21. https://www.ncbi.nlm.nih.gov/pubmed/25061177

References

• ICD10CM:D69.4
• MIM:616176
• ORDO:438207

Ontology

Human Disease   ( DOID:0111048 )