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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 Defects, Congenital (D006330)
Parent Node: Heart Valve Diseases (D006349)
..Starting node ..Cardiac Valvular Defect, Developmental (C565882)
Child Nodes:
Sister Nodes:
..Aortic Valve Disease (C563178) 1
..Aortic Valve Insufficiency (D001022)
..Aortic Valve Stenosis (D001024) 32
..Bicuspid Aortic Valve (C562388)
..Cardiac Valvular Defect, Developmental (C565882)
..Disproportionate Short Stature with Ptosis and Valvular Heart Lesions (C565094)
..Heart Valve Prolapse (D016127) 12
..Mitral Valve Insufficiency (D008944) 3
..Mitral Valve Stenosis (D008946)
..Pulmonary Atresia (D018633) 2
..Pulmonary Valve Insufficiency (D011665)
..Pulmonary Valve Stenosis (D011666) 10
..Storm Syndrome (C566109)
..Tricuspid Atresia (D018785) 1
..Tricuspid Valve Insufficiency (D014262)
..Tricuspid Valve Stenosis (D014264)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1697

Name:

Cardiac Valvular Defect, Developmental

Definition:

Alternative IDs:

ParentIDs:

MESH:D006330|MESH:D006349

TreeNumbers:

C14.240.400/C565882 |C14.280.400/C565882 |C14.280.484/C565882 |C16.131.240.400/C565882

Synonyms:

Slim Mappings:

Cardiovascular disease|Congenital abnormality

Reference:

MedGen: C565882
MeSH: C565882
OMIM: 212093;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0031014	Arteria lusoria
3	HP:0000969	Edema
4	HP:0000126	Hydronephrosis
5	HP:0001789	Hydrops fetalis
6	HP:0000072	Hydroureter
7	HP:0000023	Inguinal hernia
8	HP:0001718	Mitral stenosis
9	HP:0001634	Mitral valve prolapse
10	HP:0001655	Patent foramen ovale
11	HP:0005180	Tricuspid regurgitation
12	HP:0001704	Tricuspid valve prolapse
13	HP:0008722	Urethral diverticulum

Disease Causing ClinVar Variants