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Items: 16

1.

Myeloperoxidase deficiency

MedGen UID:
96015
Concept ID:
C0398595
Disease or Syndrome
2.

Reduced protein C activity

An absence or deficiency in PROTEIN C which leads to impaired regulation of blood coagulation. It is associated with an increased risk of severe or premature thrombosis. (Stedman's Med. Dict., 26th ed.) [from MeSH]

MedGen UID:
96016
Concept ID:
C0398625
Disease or Syndrome
3.

protein folding

Processes involved in the formation of TERTIARY PROTEIN STRUCTURE. [from MeSH]

MedGen UID:
58195
Concept ID:
C0162847
Molecular Function
4.

Protein C

A vitamin-K dependent zymogen present in the blood, which, upon activation by thrombin and thrombomodulin exerts anticoagulant properties by inactivating factors Va and VIIIa at the rate-limiting steps of thrombin formation. [from MeSH]

MedGen UID:
46154
Concept ID:
C0033621
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
5.

Oxygen

An element with atomic symbol O, atomic number 8, and atomic weight [15.99903; 15.99977]. It is the most abundant element on earth and essential for respiration. [from MeSH]

MedGen UID:
45267
Concept ID:
C0030054
Biologically Active Substance; Element, Ion, or Isotope; Pharmacologic Substance
6.

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
7.

Hydrogen Peroxide

A strong oxidizing agent used in aqueous solution as a ripening agent, bleach, and topical anti-infective. It is relatively unstable and solutions deteriorate over time unless stabilized by the addition of acetanilide or similar organic materials. [from MeSH]

MedGen UID:
9340
Concept ID:
C0020281
Indicator, Reagent, or Diagnostic Aid; Inorganic Chemical; Pharmacologic Substance
8.

Fibrosis

formation of excess fibrous connective tissue [from CHV]

MedGen UID:
5179
Concept ID:
C0016059
Pathologic Function
9.

En(a-) phenotype

MedGen UID:
714462
Concept ID:
C1292209
Finding
10.

Calcium[47Ca] chloride

MedGen UID:
696529
Concept ID:
C1273034
Inorganic Chemical; Pharmacologic Substance
11.

Calcium[45Ca] chloride

MedGen UID:
696528
Concept ID:
C1273033
Inorganic Chemical; Pharmacologic Substance
12.

Prolonged

MedGen UID:
615082
Concept ID:
C0439590
Temporal Concept
13.

Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant

Heterozygous protein C deficiency is characterized by recurrent venous thrombosis. However, many adults with heterozygous disease may be asymptomatic (Millar et al., 2000). Individuals with decreased amounts of protein C are classically referred to as having type I deficiency and those with normal amounts of a functionally defective protein as having type II deficiency (Bertina et al., 1984). Acquired protein C deficiency is a clinically similar disorder caused by development of an antibody against protein C. Clouse and Comp (1986) reviewed the structural and functional properties of protein C and discussed both hereditary and acquired deficiency of protein C. [from OMIM]

MedGen UID:
436138
Concept ID:
C2674321
Disease or Syndrome
14.

Proteolytic Processing

Generally irreversible, Proteolytic Processing involves removal of peptide segments from proteins, usually from the N- or C-terminus and often during polypeptide maturation, to regulate activity, location, or stability. [from NCI]

MedGen UID:
271417
Concept ID:
C1514570
Molecular Function
15.

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; Genetic Function
16.

Granulocyte granule deficiency

MedGen UID:
543879
Concept ID:
C0272186
Cell or Molecular Dysfunction
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