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Items: 1 to 20 of 23

1.

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 GTR]

MedGen UID:
41393
Concept ID:
C0010674
Disease or Syndrome
2.

Fibrosis

Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury. [from MeSH]

MedGen UID:
5179
Concept ID:
C0016059
Pathologic Function
3.

Infection

The invasion of an organism's body tissues by disease-causing agents and their multiplication, as well as the reaction by the host to these organisms and/or toxins that the organisms produce. [from NCI]

MedGen UID:
811352
Concept ID:
C3714514
Pathologic Function
4.

Pulmonary function

MedGen UID:
463621
Concept ID:
C3160731
Finding
5.

Mild

Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
268697
Concept ID:
C1513302
Finding
6.

Inborn genetic diseases

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
7.

Sequence Deletion

Deletion of sequences of nucleic acids from the genetic material of an individual. [from MeSH]

MedGen UID:
102460
Concept ID:
C0162773
Cell or Molecular Dysfunction
8.

Disease due to Gram-negative bacteria

Infections caused by bacteria that show up as pink (negative) when treated by the gram-staining method. [from MeSH]

MedGen UID:
88406
Concept ID:
C0085423
Disease or Syndrome
9.

Mutagenesis

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
10.

Risk factor

An aspect of personal behavior or lifestyle, environmental exposure, inborn or inherited characteristic, which, on the basis of epidemiological evidence, is known to be associated with a health-related condition considered important to prevent. [from MeSH]

MedGen UID:
48477
Concept ID:
C0035648
Finding
11.

Diseases, Respiratory Tract

Diseases involving the RESPIRATORY SYSTEM. [from MeSH]

MedGen UID:
19750
Concept ID:
C0035242
Disease or Syndrome
12.

Abnormality of the pancreas

A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms. [from NCI]

MedGen UID:
14583
Concept ID:
C0030286
Disease or Syndrome
13.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. [from MeSH]

MedGen UID:
14319
Concept ID:
C0027612
Congenital Abnormality; Disease or Syndrome
14.

Bacterial infection by site

An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections. [from NCI]

MedGen UID:
14012
Concept ID:
C0004623
Disease or Syndrome
15.

Bacterial infection due to Pseudomonas

Infections with bacteria of the genus PSEUDOMONAS. [from MeSH]

MedGen UID:
10993
Concept ID:
C0033817
Disease or Syndrome
16.

Neonatal disorder

A non-neoplastic or neoplastic disorder which occurs during the neonatal period. [from NCI]

MedGen UID:
9460
Concept ID:
C0021290
Disease or Syndrome
17.

Disorder of lung

A non-neoplastic or neoplastic disorder affecting the lung. Representative examples of non-neoplastic disorders include chronic obstructive pulmonary disease and pneumonia. Representative examples of neoplastic disorders include benign processes (e.g., respiratory papilloma) and malignant processes (e.g., lung carcinoma and metastatic cancer to the lung). [from NCI]

MedGen UID:
7399
Concept ID:
C0024115
Disease or Syndrome
18.

Electrolyte

Substances that dissociate into two or more ions, to some extent, in water. Solutions of electrolytes thus conduct an electric current and can be decomposed by it (ELECTROLYSIS). (Grant & Hackh's Chemical Dictionary, 5th ed) [from MeSH]

MedGen UID:
3997
Concept ID:
C0013832
Inorganic Chemical; Pharmacologic Substance
19.

Abnormality of the gastrointestinal tract

An abnormality of the gastrointestinal tract. [from HPO]

MedGen UID:
3828
Concept ID:
C0012242
Disease or Syndrome
20.

Bacterial Infections and Mycoses

Infections caused by bacteria and fungi, general, specified, or unspecified. [from MeSH]

MedGen UID:
2161
Concept ID:
C0004615
Disease or Syndrome
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