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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Aortopulmonary Septal Defect (D001028)
..Starting node ..Truncus Arteriosus, Persistent (D014339)
Child Nodes:
........CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
........Thomas Jewett Raines syndrome (C536513)
Sister Nodes:
..Truncus Arteriosus, Persistent (D014339) 2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	11295
Name:	Truncus Arteriosus, Persistent
Definition:	A congenital anomaly caused by the failed development of TRUNCUS ARTERIOSUS into separate AORTA and PULMONARY ARTERY. It is characterized by a single arterial trunk that forms the outlet for both HEART VENTRICLES and gives rise to the systemic, pulmonary, and coronary arteries. It is always accompanied by a ventricular septal defect.
Alternative IDs:
ParentIDs:	MESH:D001028
TreeNumbers:	C14.240.400.560.098.500 \|C14.280.400.560.098.500 \|C16.131.240.400.560.098.500
Synonyms:	Persistent Truncus Arteriosus
Slim Mappings:	Cardiovascular disease\|Congenital abnormality
Reference:	MedGen: D014339 MeSH: D014339 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants