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Results: 9

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.

Fibrosis

The formation of fibrous tissue; fibroid or fibrous degeneration. [from NCI]

MedGen UID:
5179
Concept ID:
C0016059
Pathologic Function
3.

Asthma

Asthma is a chronic disease that affects your airways. Your airways are tubes that carry air in and out of your lungs. If you have asthma, the inside walls of your airways become sore and swollen. That makes them very sensitive, and they may react strongly to things that you are allergic to or find irritating. When your airways react, they get narrower and your lungs get less air. Symptoms of asthma include: -Wheezing. -Coughing, especially early in the morning or at night. -Chest tightness. -Shortness of breath. Not all people who have asthma have these symptoms. Having these symptoms doesn't always mean that you have asthma. Your doctor will diagnose asthma based on lung function tests, your medical history, and a physical exam. You may also have allergy tests. When your asthma symptoms become worse than usual, it's called an asthma attack. Severe asthma attacks may require emergency care, and they can be fatal. Asthma is treated with two kinds of medicines: quick-relief medicines to stop asthma symptoms and long-term control medicines to prevent symptoms. . NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
2109
Concept ID:
C0004096
Disease or Syndrome
4.

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 rheumatoid arthritis is a form of the disease 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
5.

Juvenile arthritis

Juvenile rheumatoid arthritis (JRA) is a type of arthritis that happens in children age 16 or younger. It causes joint swelling, pain, stiffness, and loss of motion. It can affect any joint, and in some cases it can affect internal organs as well. One early sign of JRA may be limping in the morning. Symptoms can come and go. Some children have just one or two flare-ups. Others have symptoms that never go away. JRA causes growth problems in some children. . No one knows exactly what causes JRA. Scientists do know it is an autoimmune disorder, which means your immune system, which normally helps your body fight infection, attacks your body's own tissues. JRA can be hard to diagnose. Your health care provider may do a physical exam, lab tests, and x-rays. Medicines and physical therapy can help maintain movement and reduce swelling and pain. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases.  [from MedlinePlus]

MedGen UID:
760659
Concept ID:
C3495559
Disease or Syndrome
6.

Asthma

Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. [from HPO]

MedGen UID:
505101
Concept ID:
CN001900
Finding
7.

Arthritis

Inflammation of a joint. [from HPO]

MedGen UID:
504815
Concept ID:
CN001254
Finding
8.

Hemophilia

Hemophilia is a bleeding disorder that slows the blood clotting process. People with this condition experience prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases of hemophilia, continuous bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms of hemophilia do not necessarily involve spontaneous bleeding, and the condition may not become apparent until abnormal bleeding occurs following surgery or a serious injury. The major types of this condition are hemophilia A (also known as classic hemophilia or factor VIII deficiency) and hemophilia B (also known as Christmas disease or factor IX deficiency). Although the two types have very similar signs and symptoms, they are caused by mutations in different genes. People with an unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes of excessive bleeding in childhood but have few bleeding problems after puberty.
[from GHR]

MedGen UID:
146334
Concept ID:
C0684275
Disease or Syndrome
9.

Chronic

A disease or condition that persists or progresses over a long period of time. [from NCI]

MedGen UID:
104657
Concept ID:
C0205191

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