ORPHA:665044

Common arterial trunk with aortic dominance

Orphadata ships no English definition for this code.

Names in Orphadata languages

10 of 12 languages

Lang	Name	Synonyms
en	Common arterial trunk with aortic dominance
fr	Tronc artériel commun à dominance aortique
de	Truncus arteriosus communis mit Aortadominanz
es	Tronco arterioso común con predominio aórtico
it	Tronco arterioso comune a prevalenza aortica
nl	Truncus arteriosus communis met dominantie van aorta
pt	Tronco arterial comum com dominância aórtica
pl	Pień tętniczy wspólny z przewagą aorty
cs	Společný arteriální kmen s dominancí aorty
uk	Загальний артеріальний стовбур з аортальним домінуванням

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
MONDO	0971107	E		validated
UMLS	C4546067	E		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):

ORPHA:3384Common arterial trunk
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases

No children.

2 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
GATA6	Disease-causing germline mutation(s) in	Assessed	HGNC:4174	ENSG00000141448	601656	18q11.2	GATA binding protein 6	19666519[PMID]_38351237[PMID]
TBX1	Disease-causing germline mutation(s) in	Assessed	HGNC:11592	ENSG00000184058	602054	22q11.21	T-box transcription factor 1	14585638[PMID]_29509905[PMID]

0 records

No prevalence record in this release.

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