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Items: 18

1.

Inflammatory bowel disease 1

Crohn's disease is a complex, long-lasting (chronic) disorder that primarily affects the digestive system. This condition involves an abnormal immune response that causes excess inflammation. It most often affects the intestinal walls, particularly in the lower part of the small intestine (the ileum) and portions of the large intestine (the colon). However, inflammation can occur in any part of the digestive system, from the mouth to the anus. The inflamed tissues become thick and swollen, and the inner surfaces of the digestive system may develop open sores (ulcers).

Crohn's disease most commonly appears in a person's late teens or twenties, although the disease can begin 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's disease have blood in the stool from inflamed tissues in the intestine; over time, chronic bleeding can lead to a low number of red blood cells (anemia). In some cases, Crohn's disease can also cause inflammation affecting the joints, eyes, or skin.

Intestinal blockage is a common complication of Crohn's 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 and passages form between loops of the intestine or between the intestine and nearby structures (such as the bladder, vagina, or skin).

Crohn's 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's disease, which can affect any part of the digestive system, ulcerative colitis typically causes inflammation only in the colon. [from MedlinePlus Genetics]

MedGen UID:
943107
Concept ID:
CN260071
Disease or Syndrome
2.

Gilbert syndrome, susceptibility to

MedGen UID:
864862
Concept ID:
C4016425
Finding
3.

Inflammation of the large intestine

Inflammation, or an inflammatory state in the large intestine. [from HPO]

MedGen UID:
662273
Concept ID:
C0578878
Disease or Syndrome
4.

Inflammatory bowel disease 25

Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene. [from MONDO]

MedGen UID:
393403
Concept ID:
C2675508
Disease or Syndrome
5.

Psoriasis 2

Any psoriasis in which the cause of the disease is a mutation in the CARD14 gene. [from MONDO]

MedGen UID:
351141
Concept ID:
C1864497
Disease or Syndrome
6.

Psoriasis 4, susceptibility to

MedGen UID:
347765
Concept ID:
C1858958
Finding
7.

Psoriasis 5, susceptibility to

MedGen UID:
347660
Concept ID:
C1858536
Finding
8.

Psoriasiform dermatitis

A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales). [from HPO]

MedGen UID:
75508
Concept ID:
C0262985
Disease or Syndrome
9.

Inflammatory bowel disease

Inflammatory bowel disease is a systemic disorder comprised of two major disorders: ulcerative colitis and Crohn disease. Crohn disease can affect any part of the digestive system while ulcerative colitis is confined to the colon. Both disorders may affect sites outside of the digestive system [from SNOMEDCT_US]

MedGen UID:
43877
Concept ID:
C0021390
Disease or Syndrome
10.

Colitis

Ulcerative colitis is a chronic disorder that affects the digestive system. This condition is characterized by abnormal inflammation of the inner surface (epithelium) of the rectum and colon. The rectum and colon make up most of the length of the large intestine. The inflammation usually causes open sores (ulcers) to develop in the large intestine. Ulcerative colitis usually appears between the age of 15 and 30, although it can develop at any age. The inflammation tends to flare up multiple times throughout a person's life, which causes recurring signs and symptoms.

The most common symptoms of ulcerative colitis are cramping abdominal pain and frequent diarrhea, often with blood, pus, or mucus in the stool. Other signs and symptoms include nausea, loss of appetite, bowel urgency, fatigue, and fevers. Chronic bleeding from the inflamed and ulcerated intestinal tissue can cause a shortage of red blood cells (anemia) in some affected individuals. People with this disorder have difficulty absorbing enough fluids and nutrients from their diet and often experience weight loss. Affected children usually grow more slowly than normal. Less commonly, ulcerative colitis causes problems with the skin, joints, eyes, kidneys, or liver, which are most likely due to abnormal inflammation.

Toxic megacolon is a rare complication of ulcerative colitis that can be life-threatening. Toxic megacolon involves a widening (dilation) of the colon and an overwhelming inflammatory response. Ulcerative colitis also increases the risk of developing colon cancer, especially in people whose entire colon is inflamed and in those who have had ulcerative colitis for 8 years or more.

Ulcerative colitis is one common form of inflammatory bowel disease (IBD). Another type of IBD, Crohn's disease, also causes chronic inflammation of the intestines. Unlike ulcerative colitis, which affects only the inner surface of the large intestine, Crohn's disease can cause inflammation in any part of the digestive system, and the inflammation extends deeper into the intestinal tissue. [from MedlinePlus Genetics]

MedGen UID:
40385
Concept ID:
C0009319
Disease or Syndrome
11.

Ulcer disease

A circumscribed inflammatory and often suppurating lesion on the skin or an internal mucous surface resulting in necrosis of tissue. [from NCI]

MedGen UID:
22541
Concept ID:
C0041582
Pathologic Function
12.

Ankylosing spondylitis

An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine. [from NCI]

MedGen UID:
11561
Concept ID:
C0038013
Disease or Syndrome
13.

Spondylitis

Inflammation of the vertebrae (vertebral bodies) or spine. [from HPO]

MedGen UID:
11560
Concept ID:
C0038012
Disease or Syndrome
14.

Psoriasis

An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp. [from NCI]

MedGen UID:
10997
Concept ID:
C0033860
Disease or Syndrome
15.

Mycobacterial infectious disease

Infection due to organisms from the genus Mycobacteria. [from NCI]

MedGen UID:
6479
Concept ID:
C0026918
Disease or Syndrome
16.

Irritable bowel syndrome

Gastrointestinal symptoms characterized by chronic abdominal pain and altered bowel habits in the absence of any organic cause. [from NCI]

MedGen UID:
5897
Concept ID:
C0022104
Disease or Syndrome
17.

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
18.

Ulcerative colitis

A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon. [from HPO]

MedGen UID:
3532
Concept ID:
C0009324
Disease or Syndrome
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