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Results: 1 to 20 of 36

1.

Hypoplastic left heart syndrome

Hypoplastic left heart syndrome results from defective development of the aorta proximal to the entrance of the ductus arteriosus and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged (Brekke, 1953). Genetic Heterogeneity of Hypoplastic Left Heart Syndrome Hypoplastic left heart syndrome-2 (HLHS2; 614435) is caused by mutation in the NKX2-5 gene (600584) on chromosome 5q35.1. Somatic mutations in the HAND1 gene (602406) have been identified in tissue samples from patients with HLHS. [from OMIM]

MedGen UID:
57746
Concept ID:
C0152101
Congenital Abnormality
2.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
3.

Aortic valve stenosis

constriction in the opening of the aortic valve or of the supravalvular or subvalvular regions. [from CRISP]

MedGen UID:
1621
Concept ID:
C0003507
Disease or Syndrome
4.

AORTIC VALVE DISEASE 2

MedGen UID:
762200
Concept ID:
C3542024
Disease or Syndrome
5.

Left ventricular outflow

MedGen UID:
628749
Concept ID:
C0455821
Finding
6.

Acquired stenosis

MedGen UID:
507599
Concept ID:
C0009814
Pathologic Function
7.

Hypoplastic left heart

Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta. [from HPO]

MedGen UID:
505616
Concept ID:
CN003882
Finding
8.

Aortic valve stenosis

The presence of a stenosis (narrowing) of the aortic valve. [from HPO]

MedGen UID:
504892
Concept ID:
CN001503
Finding
9.

Coarctation

MedGen UID:
473039
Concept ID:
C0332886
Anatomical Abnormality
10.

Aortic valve disease 2

MedGen UID:
472524
Concept ID:
CN143724
Disease or Syndrome
11.

Hypoplastic left heart

MedGen UID:
472221
Concept ID:
CN130143
Finding
12.

Coarctation of aorta

MedGen UID:
341320
Concept ID:
C1848852
Finding
13.

Stricture

Narrowing or stricture of a duct or canal. [from NCI]

MedGen UID:
224710
Concept ID:
C1261287
Pathologic Function
14.

Left

Being or located on or directed toward the side of the body to the west when facing north. [from NCI]

MedGen UID:
104642
Concept ID:
C0205091
15.

Coarctation of aorta

A birth defect characterized by the narrowing of the AORTA that can be of varying degree and at any point from the transverse arch to the iliac bifurcation. Aortic coarctation causes arterial HYPERTENSION before the point of narrowing and arterial HYPOTENSION beyond the narrowed portion. [from MeSH]

MedGen UID:
1617
Concept ID:
C0003492
Congenital Abnormality
16.

Cranioosteoarthropathy

MedGen UID:
394824
Concept ID:
C2678439
Disease or Syndrome
17.

Disease Attributes

Clinical characteristics of disease or illness. [from MeSH]

MedGen UID:
199876
Concept ID:
C0752357
Disease or Syndrome
18.

Congenital, inherited, or acquired anomalies of the CARDIOVASCULAR SYSTEM, including the HEART and BLOOD VESSELS. [from MeSH]

MedGen UID:
116727
Concept ID:
C0243050
19.

Ventricular Outflow Obstruction

Occlusion of the outflow tract in either the LEFT VENTRICLE or the RIGHT VENTRICLE of the heart. This may result from CONGENITAL HEART DEFECTS, predisposing heart diseases, complications of surgery, or HEART NEOPLASMS. [from MeSH]

MedGen UID:
52999
Concept ID:
C0042512
Disease or Syndrome
20.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. [from MeSH]

MedGen UID:
14319
Concept ID:
C0027612
Disease or Syndrome

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