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Items: 17

1.

Ochronosis

A disorder characterized by bluish-black discoloration of the cartilaginous tissues due to accumulation of homogentisic acid. It is associated with alkaptonuria. Signs and symptoms include dark urine, skin pigmentation, and arthritis. [from NCI]

MedGen UID:
45177
Concept ID:
C0028817
Disease or Syndrome
2.

Aortic valve stenosis

A pathological constriction that can occur above (supravalvular stenosis), below (subvalvular stenosis), or at the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA. [from MeSH]

MedGen UID:
1621
Concept ID:
C0003507
Disease or Syndrome
3.

Alkaptonuria

Alkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine degradation pathway. The three major features of alkaptonuria are the presence of HGA in the urine, ochronosis (bluish-black pigmentation in connective tissue), and arthritis of the spine and larger joints. Oxidation of the HGA excreted in the urine produces a melanin-like product and causes the urine to turn dark on standing. Ochronosis occurs only after age 30 years; arthritis often begins in the third decade. Other manifestations include pigment deposition, aortic or mitral valve calcification or regurgitation and occasionally aortic dilatation, renal stones, and prostate stones. [from GTR]

MedGen UID:
1413
Concept ID:
C0002066
Disease or Syndrome
4.

Aortic valve disease 2

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

Stenosis

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

MedGen UID:
224710
Concept ID:
C1261287
Pathologic Function
6.

Aortic valve disorder

Bicuspid, or bicommissural, aortic valve (BAV) describes an aortic valve with 2 rather than 3 leaflets (Cripe et al., 2004). In 1 to 2% of the population a bicuspid aortic valve is present. Bicuspid aortic valve is frequently an antecedent to aortic valve stenosis or insufficiency. In extreme cases the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome (241550) (Garg et al., 2005). The valve calcification often observed in bicuspid aortic valve is a result of inappropriate activation of osteoblast-specific gene expression. Mutations in the signaling and transcription regulator NOTCH1 cause a spectrum of developmental aortic valve anomalies and severe valve calcification in nonsyndromic autosomal dominant human pedigrees. Genetic Heterogeneity of Aortic Valve Disease Aortic valve disease-2 (AOVD2; 614823) is caused by mutation in the SMAD6 gene (602931) on chromosome 15q22. There is evidence for additional genetic heterogeneity (see MAPPING). [from GTR]

MedGen UID:
226776
Concept ID:
C1260873
Disease or Syndrome
7.

Bicuspid aortic valve

A congenital anomaly in which the aortic valve has two leaflets. It is associated with mutations in the NOTCH1 gene or the SMAD6 gene, encoding neurogenic locus notch homolog protein 1 and mothers against decapentaplegic homolog 6, respectively. It is a clinically heterogeneous condition, with a high incidence of aortic valve and ascending aortic complications requiring surgery. [from NCI]

MedGen UID:
57436
Concept ID:
C0149630
Congenital Abnormality
8.

Microcalcification

MedGen UID:
636470
Concept ID:
C0521174
Pathologic Function
9.

Tumoral calcinosis

An extremely rare benign condition characterized by large calcified periarticular soft tissue masses composed of calcium salts, usually located around large joints. Tumoral calcinosis can occur due to HYPERPHOSPHATEMIA in patients with UREMIA and/or who are undergoing RENAL DIALYSIS. [from MeSH]

MedGen UID:
452340
Concept ID:
C0263628
Disease or Syndrome
10.

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
11.

Inborn error of metabolism

A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body. [from NCI]

MedGen UID:
6323
Concept ID:
C0025521
Congenital Abnormality; Disease or Syndrome
12.

cardiac valvular disease

An abnormality of a cardiac valve. [from HPO]

MedGen UID:
5463
Concept ID:
C0018824
Disease or Syndrome
13.

Heart disease

A non-neoplastic or neoplastic disorder that affects the heart and/or the pericardium. Representative examples include endocarditis, pericarditis, atrial myxoma, cardiac myeloid sarcoma, and pericardial malignant mesothelioma. [from NCI]

MedGen UID:
5458
Concept ID:
C0018799
Disease or Syndrome
14.

Disorder of amino acid metabolism

An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria. [from NCI]

MedGen UID:
1867
Concept ID:
C0002514
Disease or Syndrome
15.

Disorder of calcium metabolism

Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization. [from MeSH]

MedGen UID:
714
Concept ID:
C0006705
Disease or Syndrome
16.

Calcinosis

Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer. [from NCI]

MedGen UID:
709
Concept ID:
C0006663
Finding; Pathologic Function
17.

No Cardiac Valve Stenosis

The cardiac valve orifice is not abnormally narrow. (ACC) [from NCI]

MedGen UID:
476749
Concept ID:
C3275116
Finding
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