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Items: 16

1.

Inflammation

A localized protective response resulting from injury or destruction of tissues. Inflammation serves to destroy, dilute, or wall off both the injurious agent and the injured tissue. In the acute phase, inflammation is characterized by the signs of pain, heat, redness, swelling, and loss of function. Histologically, inflammation involves a complex series of events, including dilatation of arterioles, capillaries, and venules, with increased permeability and blood flow; exudation of fluids, including plasma proteins; and leukocyte migration into the site of inflammation. [from NCI]

MedGen UID:
7072
Concept ID:
C0021368
Pathologic Function
2.

Mutant

An altered form of an individual, organism, population, or genetic character that differs from the corresponding wild type due to one or more alterations (mutations). [from NCI]

MedGen UID:
109303
Concept ID:
C0596988
Cell or Molecular Dysfunction
3.

Crohn disease

Crohn disease is a complex, chronic disorder that primarily affects the digestive system. This condition typically involves abnormal inflammation of the intestinal walls, particularly in the lower part of the small intestine (the ileum) and portions of the large intestine (the colon). Inflammation can occur in any part of the digestive system, however. The inflamed tissues become thick and swollen, and the inner surface of the intestine may develop open sores (ulcers).Crohn disease most commonly appears in a person's late teens or twenties, although the disease can appear at any age. Signs and symptoms tend to flare up multiple times throughout life. The most common features of this condition are persistent diarrhea, abdominal pain and cramping, loss of appetite, weight loss, and fever. Some people with Crohn disease have chronic bleeding from inflamed tissues in the intestine; over time, this bleeding can lead to a low number of red blood cells (anemia). In some cases, Crohn disease can also cause medical problems affecting the joints, eyes, or skin.Intestinal blockage is a common complication of Crohn disease. Blockages are caused by swelling or a buildup of scar tissue in the intestinal walls. Some affected individuals also develop fistulae, which are abnormal connections between the intestine and other tissues. Fistulae occur when ulcers break through the intestinal wall to form passages between loops of the intestine or between the intestine and nearby structures (such as the bladder, vagina, or skin).Crohn disease is one common form of inflammatory bowel disease (IBD). Another type of IBD, ulcerative colitis, also causes chronic inflammation of the intestinal lining. Unlike Crohn disease, which can affect any part of the digestive system, ulcerative colitis typically causes inflammation only in the colon. In addition, the two disorders involve different patterns of inflammation. [from GTR]

MedGen UID:
909933
Concept ID:
CN043071
Disease or Syndrome
4.

Increased inflammatory response

A abnormal increase in the inflammatory response to injury or infection. [from HPO]

MedGen UID:
868409
Concept ID:
C4022803
Finding
5.

Inflammation of the large intestine

MedGen UID:
662273
Concept ID:
C0578878
Pathologic Function
6.

Inflammation of the large intestine

MedGen UID:
505065
Concept ID:
CN001842
Finding
7.

Inflammatory Response

A part of innate immunity, the Inflammatory Response occurs when injured tissues induce release of vasodilatory, opsonizing, and chemotactic mediators that attract macrophages and leukocytes to phagocytize and destroy foreign substances; dilate local blood vessels increasing local blood flow; increase capillary permeability; produce edematous swelling; and induce pain. Plasma- and cell-derived inflammatory mediators include Prostaglandins, Leukotrines, Cytokines, Lymphokines, Monokines, PAF, Histamine, Bradykinin, Complement, and Interferons. [from NCI]

MedGen UID:
218869
Concept ID:
C1155266
Pathologic Function
8.

Dentatorubral pallidoluysian atrophy

Dentatorubral-pallidoluysian atrophy (DRPLA) is a progressive disorder of ataxia, myoclonus, epilepsy, and progressive intellectual deterioration in children and ataxia, choreoathetosis, and dementia or character changes in adults. Onset ranges from before age one year to age 72 years; mean age of onset is 31.5 years. The clinical presentation varies depending on the age of onset. The cardinal features in adults are ataxia, choreoathetosis, and dementia. Cardinal features in children are progressive intellectual deterioration, behavioral changes, myoclonus, and epilepsy. [from GTR]

MedGen UID:
155630
Concept ID:
C0751781
Disease or Syndrome
9.

Focal

Area of greatest concentration, attention, or activity; a central point or locus, especially of an infection. [from NCI]

MedGen UID:
61391
Concept ID:
C0205234
Spatial Concept
10.

Inflammatory bowel disease

A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. [from NCI]

MedGen UID:
43877
Concept ID:
C0021390
Disease or Syndrome
11.

Clinical finding

Clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient. [from MeSH]

MedGen UID:
19974
Concept ID:
C0037088
Sign or Symptom
12.

Crohn disease

A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation. [from HPO]

MedGen UID:
3664
Concept ID:
C0010346
Disease or Syndrome
13.

Gastrointestinal disease

A non-neoplastic or neoplastic disorder that affects the gastrointestinal tract, anus, liver, biliary system, and pancreas. [from NCI]

MedGen UID:
8970
Concept ID:
C0017178
Disease or Syndrome
14.

Abnormality of the gastrointestinal tract

An abnormality of the gastrointestinal tract. [from HPO]

MedGen UID:
3828
Concept ID:
C0012242
Disease or Syndrome
15.

Inflammatory bowel disease 21

MedGen UID:
436705
Concept ID:
C2676507
Disease or Syndrome
16.

Inflammatory bowel disease 23

MedGen UID:
382861
Concept ID:
C2676484
Disease or Syndrome
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