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Items: 12

1.

Crohn disease

MedGen UID:
909933
Concept ID:
CN043071
Disease or Syndrome
2.

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:
506462
Concept ID:
CN117176
Finding
3.

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
4.

Colitis

Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases. [from HPO]

MedGen UID:
40385
Concept ID:
C0009319
Disease or Syndrome
5.

Inflammation

A microscopic finding indicating the presence of acute, subacute or chronic inflammation in a tissue sample. [from NCI]

MedGen UID:
7072
Concept ID:
C0021368
Pathologic Function
6.

Colitis

MedGen UID:
409550
Concept ID:
C1963084
Finding
7.

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
Congenital Abnormality; Disease or Syndrome
8.

Fetal alcohol syndrome

Alcohol can harm your baby at any stage during a pregnancy. That includes the earliest stages before you even know you are pregnant. Drinking alcohol can cause a group of conditions called fetal alcohol spectrum disorders (FASDs). Effects can include physical and behavioral problems such as trouble with. -Learning and remembering. -Understanding and following directions. -Controlling emotions. -Communicating and socializing. -Daily life skills, such as feeding and bathing. Fetal alcohol syndrome is the most serious type of FASD. People with fetal alcohol syndrome have facial abnormalities, including wide-set and narrow eyes, growth problems and nervous system abnormalities. FASDs last a lifetime. There is no cure for FASDs. Treatments can help. These include medicines to help with some symptoms and behavior therapy. No one treatment is right for every child. Centers for Disease Control and Prevention.  [from MedlinePlus]

MedGen UID:
8820
Concept ID:
C0015923
Disease or Syndrome
9.

Inflammatory bowel disease 1

A condition in which the gastrointestinal tract is inflamed over a long period of time. Regional enteritis usually affects the small intestine and colon. Symptoms include fever, diarrhea, stomach cramps, vomiting, and weight loss. Regional enteritis increases the risk of colorectal cancer and small intestine cancer. It is a type of inflammatory bowel disease (IBD). [from NCI]

MedGen UID:
146259
Concept ID:
C0678202
Disease or Syndrome
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.

Disorder of intestine

An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. [from HPO]

MedGen UID:
7130
Concept ID:
C0021831
Disease or Syndrome
12.

Inflammatory bowel disease 22

MedGen UID:
382862
Concept ID:
C2676485
Disease or Syndrome
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