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Metadata
ID	DOID:0061329
PURL	http://purl.obolibrary.org/obo/DOID_0061329 Copy Copied!
Name	platelet-type bleeding disorder 22
Definition	A blood platelet disease characterized by impaired platelet aggregation due to intracellular signaling defects. Patients present in the first decade with spontaneous subcutaneous bleeding and excessive bleeding after minor injuries and that has_material_basis_in homozygous mutation in the EPHB2 gene on chromosome 1p36.12. https://pubmed.ncbi.nlm.nih.gov/30213874/
Xrefs	MIM:618462
Subsets	DO_rare_slim
Synonyms	BDPLT22 [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a blood platelet disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance