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Items: 1 to 20 of 26

1.

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
2.

Combined immunodeficiency

MedGen UID:
505803
Concept ID:
CN004782
Finding
3.

Severe combined immunodeficiency

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:
505637
Concept ID:
CN003925
Finding
4.

Immunodeficiency due to defect in cd3-zeta

MedGen UID:
346666
Concept ID:
C1857798
Disease or Syndrome
5.

Combined immunodeficiency

A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern. [from NCI]

MedGen UID:
141668
Concept ID:
C0494261
Disease or Syndrome
6.

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
7.

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
8.

Eosinophilia

Increased count of eosinophils in the blood. [from HPO]

MedGen UID:
41824
Concept ID:
C0014457
Disease or Syndrome
9.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI_NCI-GLOSS]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
10.

Process

MedGen UID:
923307
Concept ID:
C1951340
Pharmacologic Substance
11.

Position

The anatomical localization of the specified phenotypic abnormality. [from HPO]

MedGen UID:
866377
Concept ID:
C4019252
Spatial Concept
12.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
13.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
14.

Respiratory distress

Difficulty in breathing. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. [from HPO]

MedGen UID:
96907
Concept ID:
C0476273
Sign or Symptom
15.

Distress

A state of physiological or psychological stress that cannot be compensated for by normal adaptive measures. [from NCI]

MedGen UID:
68535
Concept ID:
C0231303
Finding
16.

Erythroderma

An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever. [from HPO]

MedGen UID:
3767
Concept ID:
C0011606
Disease or Syndrome
17.

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
18.

Mutagenesis Process

Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS. [from MeSH]

MedGen UID:
86969
Concept ID:
C0079866
Molecular Function
19.

Point mutation

A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. [from MeSH]

MedGen UID:
56498
Concept ID:
C0162735
Cell or Molecular Dysfunction
20.

Nutritional and Metabolic Diseases

A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances. [from MeSH]

MedGen UID:
45164
Concept ID:
C0028715
Disease or Syndrome
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