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Results: 1 to 20 of 65

1.

X-Linked Chronic Granulomatous Disease

MedGen UID:
775723
Concept ID:
C3661524
Disease or Syndrome
2.

Chronic granulomatous disease, X-linked

Chronic granulomatous disease is a genetically heterogeneous immunodeficiency disorder resulting from an inability of phagocytes to kill microbes that they have ingested. This impairment in killing is caused by any of several defects in the phagocyte NADPH oxidase (phox) complex, which generates the microbicidal 'respiratory burst' (reviewed by Dinauer et al., 2001 and Johnston, 2001). Genetic Heterogeneity of Chronic Granulomatous Disease Chronic granulomatous disease can be caused by mutations in any 1 of 5 genes encoding structural or regulatory subunits of the phagocyte NADPH oxidase complex. See also autosomal recessive cytochrome b-negative CGD (233690), caused by mutation in the CYBA gene (608508); autosomal recessive cytochrome b-positive CGD type I (233700), caused by mutation in the NCF1 gene (608512); autosomal recessive cytochrome b-positive CGD II (608515), caused by mutation in the NCF2 gene (608515); and autosomal recessive cytochrome b-positive CGD type III (613960), caused by mutation in the NCF4 gene (601488). A similar syndrome, termed neutrophil immunodeficiency syndrome (608203), is caused by mutation in another protein involved in the NADPH oxidase complex, RAC2 (602049). [from OMIM]

MedGen UID:
336165
Concept ID:
C1844376
Disease or Syndrome
3.

Chronic

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

MedGen UID:
104657
Concept ID:
C0205191
4.

X-linked inheritance

MedGen UID:
66838
Concept ID:
C0241764
5.

Chronic granulomatous disease

A defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. When chronic granulomatous disease is caused by mutations in the CYBB gene, the condition is inherited in an X-linked recessive pattern. When chronic granulomatous disease is caused by CYBA, NCF1, NCF2, or NCF4 gene mutations, the condition is inherited in an autosomal recessive pattern. [from MeSH]

MedGen UID:
5377
Concept ID:
C0018203
Disease or Syndrome
6.

Infection

Invasion of the host organism by microorganisms that can cause pathological conditions or diseases. [from MeSH]

MedGen UID:
811352
Concept ID:
C3714514
Pathologic Function
7.

Infection

Unknown contamination with disease-producing germs. [from HHCC]

MedGen UID:
43874
Concept ID:
C0021311
Disease or Syndrome
8.

Busulfan

A synthetic derivative of dimethane-sulfonate with antineoplastic and cytotoxic properties. Although its mechanism of action is not fully understood, busulfan appears to act through the alkylation of DNA. Following systemic absorption of busulfan, carbonium ions are formed, resulting in DNA alkylation and DNA breaks and inhibition of DNA replication and RNA transcription. (NCI04) [from NCI]

MedGen UID:
2386
Concept ID:
C0006463
Pharmacologic Substance
9.

Communicable Diseases

Infectious diseases kill more people worldwide than any other single cause. Infectious diseases are caused by germs. Germs are tiny living things that are found everywhere - in air, soil and water. You can get infected by touching, eating, drinking or breathing something that contains a germ. Germs can also spread through animal and insect bites, kissing and sexual contact. Vaccines, proper hand washing and medicines can help prevent infections. . There are four main kinds of germs: : - Bacteria - one-celled germs that multiply quickly and may release chemicals which can make you sick. - Viruses - capsules that contain genetic material, and use your own cells to multiply. - Fungi - primitive plants, like mushrooms or mildew . - Protozoa - one-celled animals that use other living things for food and a place to live. NIH: National Institute of Allergy and Infectious Diseases.  [from MedlinePlus]

MedGen UID:
1057
Concept ID:
C0009450
Disease or Syndrome
10.

Busulfan

MedGen UID:
449983
Concept ID:
CN077508
Pharmacologic Substance
11.

Peroxisome Biogenesis Disorder, Complementation Group D

MedGen UID:
400427
Concept ID:
C1863999
Disease or Syndrome
12.

PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY

MedGen UID:
349287
Concept ID:
C1861457
Disease or Syndrome
13.

Unresponsive

Failing to produce an effect from some foregoing stimulus or agent. [from NCI]

MedGen UID:
116026
Concept ID:
C0237284
Finding
14.

Severe

A term used to describe cells that look abnormal under a microscope. These cells are more likely to grow and spread quickly than cells in low-grade cancer or in growths that may become cancer. [from NCI]

MedGen UID:
104640
Concept ID:
C0205082
15.

Hyalohyphomycosis

OPPORTUNISTIC INFECTIONS caused by a heterogeneous group of MITOSPORIC FUNGI with clear (hyalo-) HYPHAE in the host. Common causative agents include ACREMONIUM; ASPERGILLUS; CHRYSOSPORIUM; FUSARIUM; PAECILOMYCES; PENICILLIUM; PSEUDALLESCHERIA; SCEDOSPORIUM; and SCOPULARIOPSIS. Normally a dermatomycoses, it can become invasive in the IMMUNOCOMPROMISED HOST. [from MeSH]

MedGen UID:
452455
Concept ID:
C0343952
Disease or Syndrome
16.

Immunomodulators

agents of both drug and biological origin often used in immunotherapy to stimulate, potentiate, or depress the immune response; also used to inhibit or enhance specific subclasses of immunocytes. [from CRISP]

MedGen UID:
282900
Concept ID:
C1527392
Pharmacologic Substance
17.

X-linked hereditary disease

Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases. [from MeSH]

MedGen UID:
222910
Concept ID:
C1138434
Disease or Syndrome
18.

Mylecytan

MedGen UID:
196395
Concept ID:
C0728927
Pharmacologic Substance
19.

Busulfex

MedGen UID:
184873
Concept ID:
C0939273
Pharmacologic Substance
20.

Genetic Diseases, Inborn

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome

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