ORPHA:728656

Bleeding diathesis due to thromboxane A2 receptor variants

Synonyms: Bleeding diathesis due to TBXA2R variants

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Bleeding diathesis due to thromboxane A2 receptor variants	Bleeding diathesis due to TBXA2R variants
fr	Troubles hémorragiques dus à des variants du récepteur du thromboxane A2	Troubles hémorragiques dus à des variants de TBXA2R
de	Hämorrhagische Diathese durch Thromboxan-A2-Rezeptor-Varianten	Blutungsdiathese durch TBXA2R-Varianten
es	Diátesis hemorrágica por variantes del receptor de tromboxano A2	Diátesis hemorrágica por variantes del receptor TBXA2R
it	Diatesi emorragica da mutazioni del recettore del trombossano A2	Diatesi emorragica da mutazioni di TBXA2R
nl	Bloedingsdiathese door varianten van tromboxaan A2-receptor	Hemorragische diathese door TBXA2R-varianten · Bloedingsdiathese door TBXA2R-varianten
pt	Bleeding diathesis due to thromboxane A2 receptor variants
pl	Bleeding diathesis due to thromboxane A2 receptor variants	= en
cs	Bleeding diathesis due to thromboxane A2 receptor variants	= en

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	614009	BTNT		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

No children.

Codes that Orphanet moved or referred to this one:

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
TBXA2R	Disease-causing germline mutation(s) in	Assessed	HGNC:11608	ENSG00000006638	188070	19p13.3	thromboxane A2 receptor	31389738[PMID]

0 records

No prevalence record in this release.

Orphanet has no HPO annotation for this code in this release.