| 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 | |
| Subsets |
DO_rare_slim |
| Synonyms |
BDPLT19 [EXACT] severe autosomal recessive macrothrombocytopenia [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |