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Items: 10

1.

Tuberous sclerosis syndrome

Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, facial angiofibromas, shagreen patches, cephalic plaques, ungual fibromas); brain (cortical dysplasias, subependymal nodules and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability/developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM]). CNS tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death. [from GeneReviews]

MedGen UID:
22518
Concept ID:
C0041341
Neoplastic Process
2.

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
3.

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
4.

Tuberous sclerosis 2

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. These changes can result in epilepsy, learning difficulties, behavioral problems, and renal failure, among other complications (reviews by Crino et al., 2006 and Curatolo et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of tuberous sclerosis, see tuberous sclerosis-1 (191100), caused by mutation in the TSC1 gene (605284) on chromosome 9q34. Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section). [from OMIM]

MedGen UID:
348170
Concept ID:
C1860707
Disease or Syndrome
5.

Neoplasm

A malignant tumor at the original site of growth. [from NCI]

MedGen UID:
227011
Concept ID:
C1306459
Finding; Neoplastic Process
6.

Obstructive lung disease

Obstruction of conducting airways of the lung. [from HPO]

MedGen UID:
154671
Concept ID:
C0600260
Disease or Syndrome
7.

Abnormality of the bronchi

The bronchi are two tubes that branch off the trachea, or windpipe. The bronchi carry air to your lungs. The most common problem with the bronchi is bronchitis, an inflammation of the tubes. Bronchitis can be acute or chronic. Other problems include. -Bronchiectasis, a condition in which damage to the airways causes them to widen and become flabby and scarred. -Exercise-induced bronchospasm, which happens when the airways shrink while you are exercising. -Bronchiolitis, an inflammation of the small airways that branch off from the bronchi. -Bronchopulmonary dysplasia, a condition affecting infants. Treatment of bronchial disorders depends on the cause.  [from MedlinePlus]

MedGen UID:
14233
Concept ID:
C0006261
Disease or Syndrome
8.

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
9.

Tuberous Sclerosis 17

MedGen UID:
833665
Concept ID:
CN229759
Disease or Syndrome
10.

Tuberous Sclerosis 15

MedGen UID:
833653
Concept ID:
CN229761
Disease or Syndrome
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