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Items: 20

1.

Infant Death

The death of a live-born INFANT within its first year of life. [from MeSH]

MedGen UID:
639821
Concept ID:
C0549159
Finding
2.

SUDDEN INFANT DEATH SYNDROME

Sudden infant death syndrome (SIDS) is a diagnosis of exclusion which should be made only after a thorough autopsy without identification of a specific cause of death (Mage and Donner, 2004). Weese-Mayer et al. (2007) provided a detailed review of genetic factors that have been implicated in SIDS. The authors concluded that SIDS represents more than 1 entity and has a heterogeneous etiology most likely involving several different genetically controlled metabolic pathways. [from OMIM]

MedGen UID:
52548
Concept ID:
C0038644
Disease or Syndrome
3.

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]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
4.

Sudden infant death

MedGen UID:
603675
Concept ID:
C0425045
Finding
5.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
6.

Furriers lung

MedGen UID:
538594
Concept ID:
C0264476
Disease or Syndrome
7.

Coffee-workers lung

MedGen UID:
538589
Concept ID:
C0264468
Disease or Syndrome
8.

Malt-workers lung

MedGen UID:
510125
Concept ID:
C0155888
Disease or Syndrome
9.

Cheese-washers lung

MedGen UID:
507549
Concept ID:
C0007969
Disease or Syndrome
10.

Cystic fibrosis

Cystic fibrosis (CF) is a multisystem disease affecting epithelia of the respiratory tract, exocrine pancreas, intestine, hepatobiliary system, and exocrine sweat glands. Morbidities include progressive obstructive lung disease with bronchiectasis, frequent hospitalizations for pulmonary disease, pancreatic insufficiency and malnutrition, recurrent sinusitis and bronchitis, and male infertility. Pulmonary disease is the major cause of morbidity and mortality in CF. Meconium ileus occurs at birth in 15%-20% of newborns with CF. More than 95% of males with CF are infertile. Congenital absence of the vas deferens (CAVD) is generally identified during evaluation of infertility or as an incidental finding at the time of a surgical procedure. Hypoplasia or aplasia of the vas deferens and seminal vesicles may occur either bilaterally or unilaterally. Testicular development and function and spermatogenesis are usually normal. [from GeneReviews]

MedGen UID:
41393
Concept ID:
C0010674
Disease or Syndrome
11.

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
12.

Fibrosis

The formation of fibrous tissue; fibroid or fibrous degeneration. [from NCI]

MedGen UID:
5179
Concept ID:
C0016059
Pathologic Function
13.

alpha 1-Antitrypsin

Alpha-1-antitrypsin (418 aa, ~47 kDa) is encoded by the human SERPINA1 gene. This protein plays a role in regulation of proteolysis. [from NCI]

MedGen UID:
215
Concept ID:
C0002191
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
14.

Disorder of fatty acid metabolism

A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources. [from NCI]

MedGen UID:
468968
Concept ID:
C0268634
Disease or Syndrome
15.

ALPHA-1-PROTEINASE INHIBITOR,HUMAN

Human serum-derived alpha-1 proteinase inhibitor (alpha-1-antitrypsin or AAT) with immunomodulating and anti-inflammatory activity. Upon administration, AAT reduces the production of proinflammatory cytokines, such as tumor necrosis factor-alpha, interleukin (IL)-1 beta, IL-32, IL-6, and proteinase 3, and induces the production of anti-inflammatory cytokines, such as IL-10 and the IL-1 receptor antagonist IL-1RN. This agent also downregulates heparan sulfate and reduces the expansion of cytotoxic effector T cells, interferes with the maturation of dendritic cells and increases T regulatory cells. Altogether, AAT may attenuate acute graft-versus-host disease (GvHD) and may facilitate graft acceptance and survival. In addition, AAT enhances levels of cAMP and activation of cAMP-dependent protein kinase A. AAT, a 52kD protein and serine protease inhibitor, belongs to the serpin superfamily. [from NCI]

MedGen UID:
167049
Concept ID:
C0795657
Amino Acid, Peptide, or Protein; Immunologic Factor; Pharmacologic Substance
16.

Oxidation

Process in which molecules are split to give products that have unpaired electrons. [from NCI]

MedGen UID:
18242
Concept ID:
C0030011
Molecular Function
17.

Respiratory Tract Diseases

Diseases involving the RESPIRATORY SYSTEM. [from MeSH]

MedGen UID:
19750
Concept ID:
C0035242
Disease or Syndrome
18.

Sudden death

Rapid and unexpected death. [from HPO]

MedGen UID:
8257
Concept ID:
C0011071
Pathologic Function
19.

Senior-Boichis syndrome

Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child. [from ORDO]

MedGen UID:
891617
Concept ID:
CN206093
Disease or Syndrome
20.

Inherited lung disorders

MedGen UID:
472867
Concept ID:
CN163264
Disease or Syndrome
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