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1.

Endotoxemia

A condition characterized by the presence of ENDOTOXINS in the blood. On lysis, the outer cell wall of gram-negative bacteria enters the systemic circulation and initiates a pathophysiologic cascade of pro-inflammatory mediators. [from MeSH]

MedGen UID:
138231
Concept ID:
C0376618
Finding
2.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
3.

Sclerosis

hardening of the tissue [from CHV]

MedGen UID:
48587
Concept ID:
C0036429
Pathologic Function
4.

Shock

Shock happens when not enough blood and oxygen can get to your organs and tissues. It causes very low blood pressure and may be life threatening. It often happens along with a serious injury. There are several kinds of shock. Hypovolemic shock happens when you lose a lot of blood or fluids. Causes include internal or external bleeding, dehydration, burns, and severe vomiting and/or diarrhea. Septic shock is caused by infections in the bloodstream. A severe allergic reaction can cause anaphylactic shock. An insect bite or sting might cause it. Cardiogenic shock happens when the heart cannot pump blood effectively. This may happen after a heart attack. Neurogenic shock is caused by damage to the nervous system. Symptoms of shock include. -Confusion or lack of alertness. -Loss of consciousness. -Sudden and ongoing rapid heartbeat. -Sweating. -Pale skin. -A weak pulse. -Rapid breathing. -Decreased or no urine output. -Cool hands and feet. Shock is a life-threatening medical emergency and it is important to get help right away. Treatment of shock depends on the cause. NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
20738
Concept ID:
C0036974
Pathologic Function
5.

Multiple sclerosis

Multiple sclerosis (MS) is a nervous system disease that affects your brain and spinal cord. It damages the myelin sheath, the material that surrounds and protects your nerve cells. This damage slows down or blocks messages between your brain and your body, leading to the symptoms of MS. They can include. -Visual disturbances. -Muscle weakness. -Trouble with coordination and balance. -Sensations such as numbness, prickling, or pins and needles . -Thinking and memory problems. No one knows what causes MS. It may be an autoimmune disease, which happens when your immune system attacks healthy cells in your body by mistake. Multiple sclerosis affects women more than men. It often begins between the ages of 20 and 40. Usually, the disease is mild, but some people lose the ability to write, speak, or walk. There is no single test for MS. Doctors use a medical history, physical exam, neurological exam, MRI, and other tests to diagnose it. There is no cure for MS, but medicines may slow it down and help control symptoms. Physical and occupational therapy may also help. NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
10123
Concept ID:
C0026769
Disease or Syndrome
6.

Arthritis

If you feel pain and stiffness in your body or have trouble moving around, you might have arthritis. Most kinds of arthritis cause pain and swelling in your joints. Joints are places where two bones meet, such as your elbow or knee. Over time, a swollen joint can become severely damaged. Some kinds of arthritis can also cause problems in your organs, such as your eyes or skin. Types of arthritis include. -Osteoarthritis is the most common type of arthritis. It's often related to aging or to an injury. -Autoimmune arthritis happens when your body's immune system attacks healthy cells in your body by mistake. Rheumatoid arthritis is the most common form of this kind of arthritis. -Juvenile arthritis is a type of arthritis that happens in children. -Infectious arthritis is an infection that has spread from another part of the body to the joint. -Psoriatic arthritis affects people with psoriasis. -Gout is a painful type of arthritis that happens when too much uric acid builds up in the body. It often starts in the big toe. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases.  [from MedlinePlus]

MedGen UID:
2043
Concept ID:
C0003864
Disease or Syndrome
7.

Crohn disease

MedGen UID:
909933
Concept ID:
CN043071
Disease or Syndrome
8.

Profound

Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
615266
Concept ID:
C0439808
Qualitative Concept
9.

Rheumatoid arthritis

Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures. [from HPO]

MedGen UID:
504816
Concept ID:
CN001255
Finding
10.

Multiple sclerosis susceptibility

Multiple sclerosis is a condition characterized by areas of damage (lesions) on the brain and spinal cord. These lesions are associated with destruction of the covering that protects nerves and promotes the efficient transmission of nerve impulses (the myelin sheath) and damage to nerve cells. Multiple sclerosis is considered an autoimmune disorder; autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs, in this case tissues of the nervous system.Multiple sclerosis usually begins in early adulthood, between ages 20 and 40. The symptoms vary widely, and affected individuals can experience one or more effects of nervous system damage. Multiple sclerosis often causes sensory disturbances in the limbs, including a prickling or tingling sensation (paresthesia), numbness, pain, and itching. Some people experience Lhermitte sign, which is an electrical shock-like sensation that runs down the back and into the limbs. This sensation usually occurs when the head is bent forward. Problems with muscle control are common in people with multiple sclerosis. Affected individuals may have tremors, muscle stiffness (spasticity), exaggerated reflexes (hyperreflexia), weakness or partial paralysis of the muscles of the limbs, difficulty walking, or poor bladder control. Multiple sclerosis is also associated with vision problems, such as blurred or double vision or partial or complete vision loss. Infections that cause fever can make the symptoms worse.There are several forms of multiple sclerosis: relapsing-remitting MS, secondary progressive MS, primary progressive MS, and progressive relapsing MS. The most common is the relapsing-remitting form, which affects approximately 80 percent of people with multiple sclerosis. Individuals with this form of the condition have periods during which they experience symptoms, called clinical attacks, followed by periods without any symptoms (remission). The triggers of clinical attacks and remissions are unknown. After about 10 years, relapsing-remitting MS usually develops into another form of the disorder called secondary progressive MS. In this form, there are no remissions, and symptoms of the condition continually worsen.Primary progressive MS is the next most common form, affecting approximately 10 to 20 percent of people with multiple sclerosis. This form is characterized by constant symptoms that worsen over time, with no clinical attacks or remissions. Primary progressive MS typically begins later than the other forms, around age 40.Progressive relapsing MS is a rare form of multiple sclerosis that initially appears like primary progressive MS, with constant symptoms. However, people with progressive relapsing MS also experience clinical attacks of more severe symptoms.
[from GHR]

MedGen UID:
429785
Concept ID:
CN031763
Disease or Syndrome
11.

Van der Woude syndrome

IRF6-related disorders span a spectrum from isolated cleft lip and palate and Van der Woude syndrome (VWS) at the mild end to popliteal pterygium syndrome (PPS) at the more severe end. Individuals with VWS show one or more of the following anomalies: Congenital, usually bilateral, paramedian lower-lip fistulae (pits) or sometimes small mounds with a sinus tract leading from a mucous gland of the lip. Cleft lip (CL). Cleft palate (CP). Note: Cleft lip with or without cleft palate (CL±P) is observed about twice as often as CP only. Submucous cleft palate (SMCP). The PPS phenotype includes the following: CL±P. Fistulae of the lower lip. Webbing of the skin extending from the ischial tuberosities to the heels. In males: bifid scrotum and cryptorchidism. In females: hypoplasia of the labia majora. Syndactyly of fingers and/or toes. Anomalies of the skin around the nails. A characteristic pyramidal fold of skin overlying the nail of the hallux (almost pathognomonic). In some non-classic forms of PPS: filiform synechiae connecting the upper and lower jaws (syngnathia) or the upper and lower eyelids (ankyloblepharon). In both VWS and PPS, growth and intelligence are normal. [from GeneReviews]

MedGen UID:
61233
Concept ID:
C0175697
Disease or Syndrome
12.

INDIAN BLOOD GROUP SYSTEM

Being or existing in a specified place or at the specified time. (NCI) [from NCI_CDISC]

MedGen UID:
57709
Concept ID:
C0150312
Finding
13.

Septic shock

Sepsis associated with HYPOTENSION or hypoperfusion despite adequate fluid resuscitation. Perfusion abnormalities may include, but are not limited to LACTIC ACIDOSIS; OLIGURIA; or acute alteration in mental status. [from MeSH]

MedGen UID:
11410
Concept ID:
C0036983
Pathologic Function
14.

Crohn disease

Crohn's disease causes inflammation of the digestive system. It is one of a group of diseases called inflammatory bowel disease. Crohn's can affect any area from the mouth to the anus. It often affects the lower part of the small intestine called the ileum. The cause of Crohn's disease is unknown. It may be due to an abnormal reaction by the body's immune system. It also seems to run in some families. It most commonly starts between the ages of 13 and 30. The most common symptoms are pain in the abdomen and diarrhea. Other symptoms include. -Bleeding from the rectum. -Weight loss. -Fever. Your doctor will diagnose Crohn's disease with a physical exam, lab tests, imaging tests, and a colonoscopy. Crohn's can cause complications, such as intestinal blockages, ulcers in the intestine, and problems getting enough nutrients. People with Crohn's can also have joint pain and skin problems. Children with the disease may have growth problems. There is no cure for Crohn's. Treatment can help control symptoms, and may include medicines, nutrition supplements, and/or surgery. Some people have long periods of remission, when they are free of symptoms. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
3664
Concept ID:
C0010346
Disease or Syndrome
15.

Rheumatoid arthritis

Rheumatoid arthritis is an inflammatory disease, primarily of the joints, with autoimmune features and a complex genetic component. [from OMIM]

MedGen UID:
2078
Concept ID:
C0003873
Disease or Syndrome
16.

Infection

Invasion of the host organism by microorganisms that can cause pathological conditions or diseases. [from MeSH]

MedGen UID:
811352
Concept ID:
C3714514
Pathologic Function
17.

Sepsis

Sepsis is a serious illness. It happens when your body has an overwhelming immune response to a bacterial infection. The chemicals released into the blood to fight the infection trigger widespread inflammation. This leads to blood clots and leaky blood vessels. They cause poor blood flow, which deprives your body's organs of nutrients and oxygen. In severe cases, one or more organs fail. In the worst cases, blood pressure drops and the heart weakens, leading to septic shock. Anyone can get sepsis, but the risk is higher in. -People with weakened immune systems. -Infants and children. -The elderly. -People with chronic illnesses, such as diabetes, AIDS, cancer, and kidney or liver disease. -People suffering from a severe burn or physical trauma. Common symptoms of sepsis are fever, chills, rapid breathing and heart rate, rash, confusion, and disorientation. Doctors diagnose sepsis using a blood test to see if the number of white blood cells is abnormal. They also do lab tests that check for signs of infection. People with sepsis are usually treated in hospital intensive care units. Doctors try to treat the infection, sustain the vital organs, and prevent a drop in blood pressure. Many patients receive oxygen and intravenous (IV) fluids. Other types of treatment, such as respirators or kidney dialysis, may be necessary. Sometimes, surgery is needed to clear up an infection. NIH: National Institute of General Medical Sciences.  [from MedlinePlus]

MedGen UID:
69314
Concept ID:
C0243026
Disease or Syndrome
18.

Systemic Inflammatory Response Syndrome

A serious condition in which there is inflammation throughout the whole body. It may be caused by a severe bacterial infection (sepsis), trauma, or pancreatitis. It is marked by fast heart rate, low blood pressure, low or high body temperature, and low or high white blood cell count. The condition may lead to multiple organ failure and shock. [from NCI_NCI-GLOSS]

MedGen UID:
69303
Concept ID:
C0242966
Disease or Syndrome
19.

Mediator of inflammation

The endogenous compounds that mediate inflammation (AUTACOIDS) and related exogenous compounds including the synthetic prostaglandins (PROSTAGLANDINS, SYNTHETIC). [from MeSH]

MedGen UID:
66209
Concept ID:
C0243042
Pharmacologic Substance
20.

Interleukin-12

A recombinant form of the endogenous heterodimeric cytokine interleukin-12 with potential antineoplastic activity. Recombinant interleukin-12 binds to and activates its cell-surface receptor, stimulating the production of interferon-gamma (IFN) which, in turn, induces IFN-gamma-inducible protein-10 (IP-10) and so inhibits tumor angiogenesis. Check for "http://www.cancer.gov/Search/ClinicalTrialsLink.aspx?id=42153&idtype=1" active clinical trials or "http://www.cancer.gov/Search/ClinicalTrialsLink.aspx?id=42153&idtype=1&closed=1" closed clinical trials using this agent. ("http://nciterms.nci.nih.gov:80/NCIBrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C1380" NCI Thesaurus) [from PDQ]

MedGen UID:
50116
Concept ID:
C0123759
Amino Acid, Peptide, or Protein; Immunologic Factor; Pharmacologic Substance
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