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Items: 16

1.

Cystic fibrosis

CFTR-related disorders include cystic fibrosis (CF) and congenital absence of the vas deferens (CAVD). Cystic fibrosis affects epithelia of the respiratory tract, exocrine pancreas, intestine, male genital tract, hepatobiliary system, and exocrine sweat glands, resulting in complex multisystem disease. Pulmonary disease is the major cause of morbidity and mortality in CF. Affected individuals have lower airway inflammation and chronic endobronchial infection, progressing to end-stage lung disease characterized by extensive airway damage (bronchiectasis, cysts, and abscesses) and fibrosis of lung parenchyma. Meconium ileus occurs at birth in 15%-20% of newborns with CF. Pancreatic insufficiency with malabsorption occurs in the great majority of individuals with CF. More than 95% of males with CF are infertile as a result of azoospermia caused by absent, atrophic, or fibrotic Wolffian duct structures. CAVD occurs in men without pulmonary or gastrointestinal manifestations of CF. Affected men have azoospermia and are thus infertile. [from GeneReviews]

MedGen UID:
41393
Concept ID:
C0010674
Disease or Syndrome
2.

Ileus

Acute obstruction of the intestines preventing passage of the contents of the intestines. [from HPO]

MedGen UID:
219874
Concept ID:
C1258215
Disease or Syndrome
3.

Ileus

Acute obstruction of the intestines preventing passage of the contents of the intestines. [from HPO]

MedGen UID:
505288
Concept ID:
CN002357
Finding
4.

Exocrine pancreatic insufficiency

Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes. [from HPO]

MedGen UID:
504939
Concept ID:
CN001582
Finding
5.

Meconium ileus

Small intestinal obstruction that results from the impaction of thick meconium in the distal small intestine. [from NCI]

MedGen UID:
473705
Concept ID:
C2939175
Disease or Syndrome
6.

Meconium ileus

Meconium ileus refers to intestinal obstruction due to inspissated meconium in the distal ileum and cecum, which develops in utero and presents shortly after birth as a failure to pass meconium (summary by Romi et al., 2012). Meconium ileus is a known clinical manifestation of cystic fibrosis (CF; 219700), and meconium ileus in the absence of CF is a rare phenomenon (summary by Tal et al., 1985). [from OMIM]

MedGen UID:
472618
Concept ID:
C0270246
Disease or Syndrome; Pathologic Function
7.

Pulmonary function

MedGen UID:
463621
Concept ID:
C3160731
Finding
8.

Meconium ileus

Obstruction of the intestine due to abnormally thick meconium. [from HPO]

MedGen UID:
446599
Concept ID:
CN003899
Finding
9.

Exocrine pancreatic insufficiency

A malabsorption condition resulting from greater than 10% reduction in the secretion of pancreatic digestive enzymes (LIPASE; PROTEASES; and AMYLASE) by the EXOCRINE PANCREAS into the DUODENUM. This condition is often associated with CYSTIC FIBROSIS and with chronic PANCREATITIS. [from MeSH]

MedGen UID:
75647
Concept ID:
C0267963
Disease or Syndrome
10.

Pancreatic insufficiency

Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes. [from HPO]

MedGen UID:
45295
Concept ID:
C0030293
Disease or Syndrome
11.

Familial cirrhosis

Cryptogenic cirrhosis is a condition that impairs liver function. People with this condition develop irreversible liver disease caused by scarring of the liver (cirrhosis), typically in mid- to late adulthood.The liver is a part of the digestive system that helps break down food, store energy, and remove waste products, including toxins. Minor damage to the liver can be repaired by the body. However, severe or long-term damage can lead to the replacement of normal liver tissue with scar tissue.In the early stages of cryptogenic cirrhosis, people often have no symptoms because the liver has enough normal tissue to function. Signs and symptoms become apparent as more of the liver is replaced by scar tissue. Affected individuals can experience fatigue, weakness, loss of appetite, weight loss, nausea, swelling (edema), enlarged blood vessels, and yellowing of the skin and whites of the eyes (jaundice).People with cryptogenic cirrhosis may develop high blood pressure in the vein that supplies blood to the liver (portal hypertension). Cryptogenic cirrhosis can lead to type 2 diabetes, although the mechanism is unclear. Some people with cryptogenic cirrhosis develop cancer of the liver (hepatocellular cancer).
[from GHR]

MedGen UID:
350049
Concept ID:
C1861556
Disease or Syndrome
12.

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
13.

Disorder of pancreas

The pancreas is a gland behind your stomach and in front of your spine. It produces juices that help break down food and hormones that help control blood sugar levels. Problems with the pancreas can lead to many health problems. These include. -Pancreatitis, or inflammation of the pancreas: This happens when digestive enzymes start digesting the pancreas itself. - Pancreatic cancer. - Cystic fibrosis, a genetic disorder in which thick, sticky mucus can also block tubes in your pancreas. The pancreas also plays a role in diabetes. In type 1 diabetes, the beta cells of the pancreas no longer make insulin because the body's immune system has attacked them. In type 2 diabetes, the pancreas loses the ability to secrete enough insulin in response to meals. .  [from MedlinePlus]

MedGen UID:
14583
Concept ID:
C0030286
Disease or Syndrome
14.

Disorder of lung

When you breathe, your lungs take in oxygen from the air and deliver it to the bloodstream. The cells in your body need oxygen to work and grow. During a normal day, you breathe nearly 25,000 times. People with lung disease have difficulty breathing. Millions of people in the U.S. have lung disease. If all types of lung disease are lumped together, it is the number three killer in the United States. The term lung disease refers to many disorders affecting the lungs, such as asthma, COPD, infections like influenza, pneumonia and tuberculosis, lung cancer, and many other breathing problems. Some lung diseases can lead to respiratory failure. Dept. of Health and Human Services Office on Women's Health.  [from MedlinePlus]

MedGen UID:
7399
Concept ID:
C0024115
Disease or Syndrome
15.

Disorder of digestive system

When you eat, your body breaks food down to a form it can use to build and nourish cells and provide energy. This process is called digestion. . Your digestive system is a series of hollow organs joined in a long, twisting tube. It runs from your mouth to your anus and includes your esophagus, stomach, and small and large intestines. Your liver, gallbladder and pancreas are also involved. They produce juices to help digestion. . There are many types of digestive disorders. The symptoms vary widely depending on the problem. In general, you should see your doctor if you have . -Blood in your stool. -Changes in bowel habits. -Severe abdominal pain. -Unintentional weight loss. -Heartburn not relieved by antacids. NIH: National Institute of Diabetes and Digestive and Kidney Diseases .  [from MedlinePlus]

MedGen UID:
3828
Concept ID:
C0012242
Disease or Syndrome
16.

Phenotype modifier, association with

MedGen UID:
834023
Concept ID:
CN231070
Disease or Syndrome
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