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Items: 16

1.

Severe Combined Immune Deficiency

MedGen UID:
893403
Concept ID:
CN239264
Disease or Syndrome
2.

Severe

Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
104640
Concept ID:
C0205082
Qualitative Concept
3.

Immunodeficiency

A deficiency of immune response or a disorder characterized by deficient immune response. [from NCI_FDA]

MedGen UID:
7034
Concept ID:
C0021051
Disease or Syndrome
4.

T-B- severe combined immunodeficiency

T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types. [from ORDO]

MedGen UID:
833397
Concept ID:
CN229114
Finding
5.

T-B+ severe combined immunodeficiency

T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. [from ORDO]

MedGen UID:
833152
Concept ID:
CN229113
Finding
6.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
7.

DNA Breaks, Double-Stranded

Interruptions in the sugar-phosphate backbone of DNA, across both strands adjacently. [from MeSH]

MedGen UID:
267994
Concept ID:
C1511667
Cell or Molecular Dysfunction
8.

Severe combined immunodeficiency disease

Severe combine immunodeficiency (SCID) is a primary immune deficiency that is characterized by a severe defect in both the T- and B-lymphocyte systems. [from HPO]

MedGen UID:
88328
Concept ID:
C0085110
Disease or Syndrome
9.

Clinical finding

clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient. [from CRISP]

MedGen UID:
19974
Concept ID:
C0037088
Sign or Symptom
10.

DNA Repair-Deficiency Disorders

Disorders resulting from defective DNA REPAIR processes or the associated cellular responses to DNA DAMAGE. [from MeSH]

MedGen UID:
327583
Concept ID:
C1563696
Disease or Syndrome
11.

Metabolic disease

Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat. A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. There are different groups of disorders. Some affect the breakdown of amino acids, carbohydrates, or lipids. Another group, mitochondrial diseases, affects the parts of the cells that produce the energy. You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example. .  [from MedlinePlus]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
12.

Neonatal disorder

An abnormal condition that occurs during the 28 days following birth. [from NCI_NICHD]

MedGen UID:
9460
Concept ID:
C0021290
Disease or Syndrome
13.

Disorder of immune system

Your immune system is a complex network of cells, tissues, and organs that work together to defend against germs. It helps your body to recognize these foreign invaders. Then its job is to keep them out, or if it can't, to find and destroy them. If your immune system cannot do its job, the results can be serious. Disorders of the immune system include. -Allergy and asthma - immune responses to substances that are usually not harmful. -Immune deficiency diseases - disorders in which the immune system is missing one or more of its parts. -Autoimmune diseases - diseases causing your immune system to attack your own body's cells and tissues by mistake. NIH: National Institute of Allergy and Infectious Diseases.  [from MedlinePlus]

MedGen UID:
5759
Concept ID:
C0021053
Disease or Syndrome
14.

Immune deficiency, familial variable

MedGen UID:
374426
Concept ID:
C1840266
Disease or Syndrome
15.

Absence of mature B cells

Complete lack of mature B cells, that is, of B cells that have left the bone marrow. [from HPO]

MedGen UID:
868166
Concept ID:
C4022558
Finding
16.

Pregnancy with abortive outcome

The unintentional or intentional loss of a pregnancy before 22 weeks gestation. [from NCI]

MedGen UID:
102352
Concept ID:
C0156543
Finding
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