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Items: 9

1.

Amino acid

Any organic compounds containing amino (-NH2) and carboxyl (-COOH) groups. In biochemistry, used to refer to the twenty-plus L-alpha-amino acids found in proteins. [from NCI]

MedGen UID:
250
Concept ID:
C0002520
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
2.

Acetylcholine

A neurotransmitter found at neuromuscular junctions, autonomic ganglia, parasympathetic effector junctions, a subset of sympathetic effector junctions, and at many sites in the central nervous system. [from MeSH]

MedGen UID:
7841
Concept ID:
C0001041
Biologically Active Substance; Organic Chemical; Pharmacologic Substance
3.

Severity

The intensity or degree of a manifestation. [from HPO]

MedGen UID:
101096
Concept ID:
C0522510
Qualitative Concept
4.

Achondroplasia

Achondroplasia is the most common process resulting in disproportionate small stature. Affected individuals have short arms and legs, a large head, and characteristic facial features with frontal bossing and midface retrusion (formerly known as midface hypoplasia). In infancy, hypotonia is typical, and acquisition of developmental motor milestones is often both aberrant in pattern and delayed. Intelligence and life span are usually near normal, although craniocervical junction compression increases the risk of death in infancy. [from GTR]

MedGen UID:
1289
Concept ID:
C0001080
Congenital Abnormality
5.

Biosynthesis, Peptide

The production of PEPTIDES or PROTEINS by the constituents of a living organism. The biosynthesis of proteins on RIBOSOMES following an RNA template is termed translation (TRANSLATION, GENETIC). There are other, non-ribosomal peptide biosynthesis (PEPTIDE BIOSYNTHESIS, NUCLEIC ACID-INDEPENDENT) mechanisms carried out by PEPTIDE SYNTHASES and PEPTIDYLTRANSFERASES. Further modifications of peptide chains yield functional peptide and protein molecules. [from MeSH]

MedGen UID:
272130
Concept ID:
C1327133
Molecular Function
6.

Aminoacylation

A reaction that introduces an aminoacyl group to a molecule. TRANSFER RNA AMINOACYLATION is the first step in GENETIC TRANSLATION. [from MeSH]

MedGen UID:
258626
Concept ID:
C1450029
Molecular Function
7.

Genetic translation

Protein synthesis is the group of processes that are involved in generation of mature protein molecules. Although protein synthesis may involve translation alone in many cases, in others, it involves also protein folding, integration of prosthetic groups, glycosylation, methylation, phosphorylation, lipidation and any other process that may be involved in maturation of the polypeptide to the biologically active form. [from NCI]

MedGen UID:
108933
Concept ID:
C0597295
Molecular Function
8.

Miochol

MedGen UID:
84302
Concept ID:
C0282037
Organic Chemical; Pharmacologic Substance
9.

Biogenic amine

A group of naturally occurring amines derived by enzymatic decarboxylation of the natural amino acids. Many have powerful physiological effects (e.g., histamine, serotonin, epinephrine, tyramine). Those derived from aromatic amino acids, and also their synthetic analogs (e.g., amphetamine), are of use in pharmacology. [from MeSH]

MedGen UID:
2255
Concept ID:
C0005496
Biologically Active Substance; Organic Chemical; Pharmacologic Substance
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