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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: Heart Septal Defects, Ventricular (D006345)
..Starting node ..Aneurysm Of Interventricular Septum (C563239)
Child Nodes:
Sister Nodes:
..Aneurysm Of Interventricular Septum (C563239)
..Brachydactyly, Intraventricular Septal Defect, And Deafness (C566521)
..Floating-harbor syndrome (C537062)
..Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect (C565517)
..Laurence Prosser Rocker syndrome (C537882)
..Partial atrioventricular canal (C536112)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

672

Name:

Aneurysm Of Interventricular Septum

Definition:

Alternative IDs:

ParentIDs:

MESH:D006345

TreeNumbers:

C14.240.400.560.540/C563239 |C14.280.400.560.540/C563239 |C16.131.240.400.560.540/C563239

Synonyms:

Slim Mappings:

Cardiovascular disease|Congenital abnormality

Reference:

MedGen: C563239
MeSH: C563239
OMIM: 105805;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0010438	Abnormal ventricular septum morphology
3	HP:0002617	Vascular dilatation

Disease Causing ClinVar Variants