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Metadata
ID DOID:0111048
Name platelet-type bleeding disorder 19
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
Xrefs

ICD10CM:D69.4

OMIM:616176

ORDO:438207

Synonyms

BDPLT19 [EXACT]

severe autosomal recessive macrothrombocytopenia [EXACT]

Parent Relationships

is_a blood platelet disease

is_a autosomal recessive disease

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