nephrogenic diabetes insipidus

DEFINITION:

A syndrome of polyuria and hyposthenuria caused by the failure of the renal tubules to reabsorb water in response to antidiuretic hormone, without disturbance in the renal filtration and solute excretion rates; the condition does not respond to exogenous vasopressin. It may be inherited as a rare X-linked trait or be acquired as a result of drug therapy or systemic disease.

NDI

DEFINITION:

Nephrogenic diabetes insipidus.

AVPR2

DEFINITION:

Arginine-vasopressin receptor 2 gene.

genes

DEFINITION:

In the singular: A segment of a DNA molecule that contains all the information required for synthesis of a product (polypeptide chain or RNA molecule), including both coding and non-coding sequences. It is the biological unit of heredity, self-reproducing, and transmitted from parent to progeny. Each gene has a specific position (locus) on the chromosome map. From the standpoint of function, genes are conceived of as structural, operator, and regulatory genes.

wild-type gene - The normal allele of a gene, sometimes symbolized by +.

X-linked gene - A gene carried on the X chromosome; the corresponding trait, whether dominant or recessive, is always expressed in males, who have only one X chromosome. X linkage is used sometimes synonymously with sex linkage since no genetic disorders have as yet been associated with genes on the Y chromosome.

inverted

DEFINITION:

1. Having turned inward, inside out, upside down, or other reversal of the normal relation of a part.
2. In psychiatry, a term used by Freud to indicate homosexuality.
3. In genetics, a condition in which a chromosomal aberration caused by the inverted reunion of a chromosome segment after breakage of a chromosome at two points, resulting in a change in sequence of genes or nucleotides; e.g., the sequence abcdefg may be inverted to abfedcg.

potentiate

DEFINITION:

To make effective or active or more effective or more active; also: to augment the activity of (as a drug) synergistically.

DNA

DEFINITION:

Deoxyribonucleic acid.

formation

DEFINITION:

1. The process of giving shape or form; the creation of an entity, or of a structure of definite shape.

2. A structure of definite shape.

flank

DEFINITION:

1. The side of the body inferior to the ribs and superior to the ilium; called also latus.

2. Side.

3. The right or left of a formation.

4. To be situated on the side of.

deletion

DEFINITION:

In genetics, the loss of any portion of the genetic material on a chromosome, ranging from loss of a single nucleotide within, which can throw the reading frame out of register and cause a frameshift mutation if it is within a coding sequence, to loss of part or all of a gene, to loss of a microscopically visible portion of the chromosome, possibly involving multiple genes.

deletion

DEFINITION:

In genetics, the loss of any portion of the genetic material on a chromosome, ranging from loss of a single nucleotide within, which can throw the reading frame out of register and cause a frameshift mutation if it is within a coding sequence, to loss of part or all of a gene, to loss of a microscopically visible portion of the chromosome, possibly involving multiple genes.

sequence

DEFINITION:

1. A connected series of events or things.
2. In dysmorphology, a pattern of multiple anomalies derived from a single known or presumed prior anomaly or mechanical factor.
3. In molecular biology, often used to refer to DNA having a particular nucleotide composition or occurring in a particular region of the genome.

sequence

DEFINITION:

1. A connected series of events or things.
2. In dysmorphology, a pattern of multiple anomalies derived from a single known or presumed prior anomaly or mechanical factor.
3. In molecular biology, often used to refer to DNA having a particular nucleotide composition or occurring in a particular region of the genome.

immunoglobulin

DEFINITION:

See definition under "immunoglobulins."

motif

DEFINITION:

A dominant idea or central theme.

alignment

DEFINITION:

1. The act of bringing into line.

2. In dentistry, bringing natural or artificial teeth into line, so that they form the two regular parabolic curves of the dental arches and reestablish a harmonious relationship with the supporting structures and with the opposite dentition.

novel mutation

DEFINITION:

A new kind of mutation, or different from anything seen or known before.

stem

DEFINITION:

A stalklike supporting structure.

homologous

DEFINITION:

1. Corresponding in structure, position, origin, etc., as (a) the feathers of a bird and the scales of a fish, (b) antigen and its specific antibody, (c) allelic chromosomes.

2. Allogeneic.

3. Pertaining to an antibody and the antigen that elicited its production.

morphological

DEFINITION:

Pertaining to morphology.

abnormalities

DEFINITION:

1. The quality or fact of being abnormal.


2. Malformations, deformities, or anomalies.

NDI

DEFINITION:

Nephrogenic diabetes insipidus.