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Results: 16

1.

Tyrosine

Amino acid with side chain -CH2-C6H4OH. [from NCI]

MedGen UID:
21746
Concept ID:
C0041485
Pharmacologic Substance
2.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
3.

Transient erythroblastopenia of childhood

Transient erythroblastopenia of childhood is a pure red cell aplasia that occurs in a previously healthy child, most commonly between 6 months and 4 years of age. The course is characterized by a complete recovery, usually within 1 to 2 months after diagnosis. In most cases no therapy is necessary, although some children may need red cell transfusion (summary by Gustavsson et al., 2002). [from OMIM]

MedGen UID:
68670
Concept ID:
C0238478
Disease or Syndrome
4.

Phosphorylation

A process in which a phosphate group is added to a molecule, such as a sugar or a protein. [from NCI]

MedGen UID:
10742
Concept ID:
C0031715
Molecular Function
5.

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
6.

Anaphylactic shock

An acute hypersensitivity reaction due to exposure to a previously encountered ANTIGEN. The reaction may include rapidly progressing URTICARIA, respiratory distress, vascular collapse, systemic SHOCK, and death. [from MeSH]

MedGen UID:
1902
Concept ID:
C0002792
Pathologic Function
7.

Calcium

You have more calcium in your body than any other mineral. Calcium has many important jobs. The body stores more than 99 percent of its calcium in the bones and teeth to help make and keep them strong. The rest is throughout the body in blood, muscle and the fluid between cells. Your body needs calcium to help muscles and blood vessels contract and expand, to secrete hormones and enzymes and to send messages through the nervous system. . It is important to get plenty of calcium in the foods you eat. Foods rich in calcium include dairy products such as milk, cheese and yogurt, and leafy, green vegetables. The exact amount of calcium you need depends on your age and other factors. Growing children and teenagers need more calcium than young adults. Older women need plenty of calcium to prevent osteoporosis. People who do not eat enough high-calcium foods should take a calcium supplement. NIH: National Institutes of Health Office of Dietary Supplements.  [from MedlinePlus]

MedGen UID:
710
Concept ID:
C0006675
Pharmacologic Substance
8.

Indicated

MedGen UID:
731837
Concept ID:
C1444656
Finding
9.

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
10.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
11.

Disease Response

The pathologic and/or clinical changes that result from treatment. The changes may include eradication of detectable disease, stabilization of disease, or disease progression. [from NCI]

MedGen UID:
309976
Concept ID:
C1704632
Finding
12.

Functional disorder

Deranged function in an individual or an organ that is due to a disease. (MedicineNet.com) [from NCI]

MedGen UID:
124450
Concept ID:
C0277785
Pathologic Function
13.

Asthma, atopic

MedGen UID:
102343
Concept ID:
C0155877
Disease or Syndrome
14.

Idiopathic generalized epilepsy

Idiopathic generalized epilepsy is a broad term that encompasses several common seizure phenotypes, classically including childhood absence epilepsy (CAE, ECA; see 600131), juvenile absence epilepsy (JAE, EJA; see 607631), juvenile myoclonic epilepsy (JME, EJM; see 254770), and epilepsy with grand mal seizures on awakening (Commission on Classification and Terminology of the International League Against Epilepsy, 1989). These recurrent seizures occur in the absence of detectable brain lesions and/or metabolic abnormalities. Seizures are initially generalized with a bilateral, synchronous, generalized, symmetrical EEG discharge (Zara et al., 1995; Lu and Wang, 2009). See also childhood absence epilepsy (ECA1; 600131), which has also been mapped to 8q24. Of note, benign neonatal epilepsy 2 (EBN2; 121201) is caused by mutation in the KCNQ3 gene (602232) on 8q24. Genetic Heterogeneity of Idiopathic Generalized Epilepsy EIG1 has been mapped to chromosome 8q24. Other loci or genes associated with EIG include EIG2 (606972) on 14q23; EIG3 (608762) on 9q32; EIG4 (609750) on 10q25; EIG5 (611934) on 10p11; EIG6 (611942), caused by mutation in the CACNA1H gene (607904) on 16p; EIG7 (604827) on 15q14; EIG8 (612899), caused by mutation in the CASR gene (601199) on 3q13.3-q21; EIG9 (607682), caused by mutation in the CACNB4 gene (601949) on 2q22-q23; EIG10 (613060), caused by mutation in the GABRD gene (137163) on 1p36.3; EIG11 (607628), caused by variation in the CLCN2 gene (600570) on 3q36; and EIG12 (614847), caused by mutation in the SLC2A1 gene (138140) on 1p34. [from OMIM]

MedGen UID:
75725
Concept ID:
C0270850
Disease or Syndrome
15.

Murine

MedGen UID:
108834
Concept ID:
C0591833
Pharmacologic Substance
16.

Anaphylactic transfusion reaction, NOS

MedGen UID:
511507
Concept ID:
C0161840
Pathologic Function

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