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Summary Literature (0)
DOID:0111053 - platelet-type bleeding disorder 15


Disease Ontology Definition:A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q.

Synonyms: BDPLT15, autosomal dominant macrothrombocytopenia ACTN1-related

Xenbase Genes : actn1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014078 - platelet-type bleeding disorder 15

OMIM:
OMIM:615193 - BLEEDING DISORDER, PLATELET-TYPE, 15; BDPLT15

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), blood platelet disease (is_a)