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Items: 1 to 20 of 35

1.

Pseudoxanthoma elasticum

Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and the cardiovascular and gastrointestinal systems. Individuals most commonly present with papules in the skin and/or with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage. Rarely, individuals may present with vascular signs and symptoms, such as gastrointestinal bleeding, angina, or intermittent claudication. The most frequent cause of morbidity and disability in PXE is reduced vision from macular hemorrhage and disciform scarring of the macula. Most affected individuals live a normal life span. [from GTR]

MedGen UID:
18733
Concept ID:
C0033847
Disease or Syndrome
2.

Probenecid

A benzoic acid derivative with antihyperuricemic property. Probenecid competitively inhibits the active reabsorption of urate at the proximal tubule in the kidney thereby increasing urinary excretion of uric acid and lowering serum urate concentrations. This prevents urate deposition and promotes resolution of existing urate deposits. In addition, probenecid modulates the transport of organic acids and acidic drugs at the proximal and distal renal tubule, thereby increasing the drug serum concentration. [from NCI]

MedGen UID:
46104
Concept ID:
C0033209
Organic Chemical; Pharmacologic Substance
3.

Indomethacin

A non-steroidal anti-inflammatory agent (NSAID) that inhibits the enzyme cyclooxygenase necessary for the formation of prostaglandins and other autacoids. It also inhibits the motility of polymorphonuclear leukocytes. [from MeSH]

MedGen UID:
5786
Concept ID:
C0021246
Organic Chemical; Pharmacologic Substance
4.

Benzbromarone

Uricosuric that acts by increasing uric acid clearance. It is used in the treatment of gout. [from MeSH]

MedGen UID:
528
Concept ID:
C0005035
Organic Chemical; Pharmacologic Substance
5.

En(a-) phenotype

MedGen UID:
714462
Concept ID:
C1292209
Finding
6.

Nemaline myopathy

Nemaline myopathy (referred to in this entry as NM) is characterized by weakness, hypotonia, and depressed or absent deep tendon reflexes. Muscle weakness is usually most severe in the face, the neck flexors, and the proximal limb muscles. The clinical classification defines six forms of NM, which are classified by onset and severity of motor and respiratory involvement: Severe congenital (neonatal) (16% of all individuals with NM). Amish NM. Intermediate congenital (20%). Typical congenital (46%). Childhood-onset (13%). Adult-onset (late-onset) (4%). Considerable overlap occurs among the forms. There are significant differences in survival between individuals classified as having severe, intermediate, and typical congenital NM. Severe neonatal respiratory disease and the presence of arthrogryposis multiplex congenita are associated with death in the first year of life. Independent ambulation before age 18 months is predictive of survival. Most children with typical congenital NM are eventually able to walk. [from GTR]

MedGen UID:
61528
Concept ID:
C0206157
Disease or Syndrome
7.

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
8.

Biosynthesis, Peptide

The production of PEPTIDES or PROTEINS by the constituents of a living organism. The biosynthesis of proteins on RIBOSOMES following an RNA template is termed translation (TRANSLATION, GENETIC). There are other, non-ribosomal peptide biosynthesis (PEPTIDE BIOSYNTHESIS, NUCLEIC ACID-INDEPENDENT) mechanisms carried out by PEPTIDE SYNTHASES and PEPTIDYLTRANSFERASES. Further modifications of peptide chains yield functional peptide and protein molecules. [from MeSH]

MedGen UID:
272130
Concept ID:
C1327133
Molecular Function
9.

Striadyne

MedGen UID:
196163
Concept ID:
C0701945
Biologically Active Substance; Nucleic Acid, Nucleoside, or Nucleotide; Pharmacologic Substance
10.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
11.

Vascular hemostatic disease

Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of BLOOD VESSELS, blood fluidity, and BLOOD COAGULATION. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the VASCULAR ENDOTHELIUM, the plasma proteins (including BLOOD COAGULATION FACTORS), and PLATELETS. [from MeSH]

MedGen UID:
154721
Concept ID:
C0600502
Disease or Syndrome
12.

Atriphos

MedGen UID:
148792
Concept ID:
C0701946
Biologically Active Substance; Nucleic Acid, Nucleoside, or Nucleotide; Pharmacologic Substance
13.

Genetic translation

Protein synthesis is the group of processes that are involved in generation of mature protein molecules. Although protein synthesis may involve translation alone in many cases, in others, it involves also protein folding, integration of prosthetic groups, glycosylation, methylation, phosphorylation, lipidation and any other process that may be involved in maturation of the polypeptide to the biologically active form. [from NCI]

MedGen UID:
108933
Concept ID:
C0597295
Molecular Function
14.

Skin and Connective Tissue Diseases

A collective term for diseases of the skin and its appendages and of connective tissue. [from MeSH]

MedGen UID:
59786
Concept ID:
C0175166
Disease or Syndrome
15.

Vascular disorder

A non-neoplastic or neoplastic disorder affecting the arteries, veins, or lymphatic vessels. Examples include vasculitis, thrombophlebitis, arteriosclerosis, lymphedema, hemangioma, and angiosarcoma. [from NCI]

MedGen UID:
22621
Concept ID:
C0042373
Disease or Syndrome
16.

Genodermatosis

Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism. [from MeSH]

MedGen UID:
20779
Concept ID:
C0037277
Disease or Syndrome
17.

dermopathy

An abnormality of the skin. [from HPO]

MedGen UID:
20777
Concept ID:
C0037274
Disease or Syndrome
18.

Protein binding

The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments. [from MeSH]

MedGen UID:
18704
Concept ID:
C0033618
Molecular Function
19.

Abnormality of the skin

A skin abnormality that is present at birth or detected in the neonatal period. [from NCI]

MedGen UID:
11449
Concept ID:
C0037268
Congenital Abnormality
20.

Haemorrhagic disorders

Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (BLOOD COAGULATION DISORDERS) or another abnormality causing a structural flaw in the blood vessels (HEMOSTATIC DISORDERS). [from MeSH]

MedGen UID:
6799
Concept ID:
C0019087
Disease or Syndrome
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