Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614009 http://purl.bioontology.org/ontology/OMIM/614009
Preferred Name	BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO
Synonyms	BLEEDING DISORDER, SUSCEPTIBILITY TO, DUE TO DEFECTIVE PLATELET THROMBOXANE A2 RECEPTOR BDPLT13
Type	http://www.w3.org/2002/07/owl#Class

altLabel	BLEEDING DISORDER, SUSCEPTIBILITY TO, DUE TO DEFECTIVE PLATELET THROMBOXANE A2 RECEPTOR BDPLT13
prefLabel	BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO
Gene Symbol	TBXA2R BDPLT13
Scope Statement	Susceptibility conferred by mutation in the platelet thromboxane A2 receptor gene (TBXA2R, 188070.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU034902 http://purl.bioontology.org/ontology/OMIM/MTHU000448 http://purl.bioontology.org/ontology/OMIM/MTHU034900 http://purl.bioontology.org/ontology/OMIM/MTHU000436 http://purl.bioontology.org/ontology/OMIM/MTHU008418 http://purl.bioontology.org/ontology/OMIM/MTHU034903 http://purl.bioontology.org/ontology/OMIM/MTHU034901 http://purl.bioontology.org/ontology/OMIM/MTHU036809 See more See less
tui	T033
Gene Locus	19p13.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614009
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T033
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3279614
OMIM Entry Type	3
OMIM MimType Value	pound

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