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Items: 11

1.

Phosphorylation

A process in which a phosphate group is added to a molecule, such as a sugar or a protein. [from NCI_NCI-GLOSS]

MedGen UID:
10742
Concept ID:
C0031715
Molecular Function
2.

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
3.

Related

MedGen UID:
619805
Concept ID:
C0445223
Finding
4.

Dentatorubral pallidoluysian atrophy

Dentatorubral-pallidoluysian atrophy (DRPLA) is a progressive disorder of ataxia, myoclonus, epilepsy, and progressive intellectual deterioration in children and ataxia, choreoathetosis, and dementia or character changes in adults. Onset ranges from before age one year to age 72 years; mean age of onset is 31.5 years. The clinical presentation varies depending on the age of onset. The cardinal features in adults are ataxia, choreoathetosis, and dementia. Cardinal features in children are progressive intellectual deterioration, behavioral changes, myoclonus, and epilepsy. [from GeneReviews]

MedGen UID:
155630
Concept ID:
C0751781
Disease or Syndrome
5.

Mutant

An altered form of an individual, organism, population, or genetic character that differs from the corresponding wild type due to one or more alterations (mutations). [from NCI]

MedGen UID:
109303
Concept ID:
C0596988
Cell or Molecular Dysfunction
6.

Ameliorated by

Weakened or thinned. Attenuated strains of disease-causing bacteria and viruses are often used as vaccines. The weakened strains are used as vaccines because they stimulate a protective immune response while causing no disease or only mild disease in the person receiving the vaccine. [from NCI_NCI-GLOSS]

MedGen UID:
83049
Concept ID:
C0332161
Qualitative Concept
7.

Post-Translational Protein Processing

Any of various enzymatically catalyzed post-translational modifications of PEPTIDES or PROTEINS in the cell of origin. These modifications include carboxylation; HYDROXYLATION; ACETYLATION; PHOSPHORYLATION; METHYLATION; GLYCOSYLATION; ubiquitination; oxidation; proteolysis; and crosslinking and result in changes in molecular weight and electrophoretic motility. [from MeSH]

MedGen UID:
46159
Concept ID:
C0033666
Molecular Function
8.

Skin tags

Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region. [from HPO]

MedGen UID:
11452
Concept ID:
C0037293
Neoplastic Process
9.

Endopeptidases

nonEC category which corresponds to EC 3.4.21, EC 3.4.22, EC 3.4.23, EC 3.4.24, and EC 3.4.99. [from CRISP]

MedGen UID:
45389
Concept ID:
C0030946
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
10.

Enzyme activation

Conversion of an inactive form of an enzyme to one possessing metabolic activity. It includes 1, activation by ions (activators); 2, activation by cofactors (coenzymes); and 3, conversion of an enzyme precursor (proenzyme or zymogen) to an active enzyme. [from MeSH]

MedGen UID:
41819
Concept ID:
C0014429
Molecular Function
11.

Deficiency of cysteine proteinase

MedGen UID:
713852
Concept ID:
C1291554
Disease or Syndrome
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