mendelian disorder

mendelian disorder
a genetic disease, showing a mendelian pattern of inheritance, and caused by a single mutation in the structure of DNA, which causes a single basic defect that has some pathological consequence or consequences. Called also monogenic or single-gene d. See also inborn error of metabolism, under error.

Medical dictionary. 2011.

Игры ⚽ Нужен реферат?

Look at other dictionaries:

  • Mendelian Inheritance in Man — The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and when possible links them to the relevant genes in the human genome and provides references for further research and tools… …   Wikipedia

  • monogenic disorder — mendelian d …   Medical dictionary

  • single-gene disorder — mendelian d …   Medical dictionary

  • Genetic disorder — For a non technical introduction to the topic, see Introduction to genetics. Genetic disorder Classification and external resources MeSH D030342 A genetic disorder is an illness caused by abnormalities in genes or …   Wikipedia

  • Attention-deficit hyperactivity disorder controversies — Methylphenidate (Ritalin) 10mg Pill (Ciba/Novartis), a drug commonly prescribed to treat ADHD The causes, diagnosis, and the treatment of attention deficit hyperactivity disorder (ADHD) have been the subject of active debate at least since the… …   Wikipedia

  • Online Mendelian Inheritance in Man — (OMIM) is a database that catalogues all the known diseases with a genetic component, and when possible links them to the relevant genes in the human genome and provides references for further research and tools for genomic analysis of a… …   Wikipedia

  • congenital disorder — Structural abnormality (e.g., atresia, agenesis), functional problem (e.g., cystic fibrosis, phenylketonuria), or disease present at birth. Almost all are due to genetic factors (inherited or spontaneous mutations, chromosomal disorders),… …   Universalium

  • Trinucleotide repeat disorder — Trinucleotide repeat disorders (also known as trinucleotide repeat expansion disorders, triplet repeat expansion disorders or codon reiteration disorders) are a set of genetic disorders caused by trinucleotide repeat expansion, a kind of mutation …   Wikipedia

  • number — 1. A symbol expressive of a certain value or of a specific quantity determined by count. 2. The place of any unit in a series. atomic n. (Z) the n. of protons in the nucleus of an atom; it indicates the position of the …   Medical dictionary

  • Full genome sequencing — Genome sequencing redirects here. For the sequencing only of DNA, see DNA sequencing. An image of the 46 chromosomes, making up the diploid genome of human male. (The mitochondrial chromosome is not shown.) Full genome sequencing (FGS), also… …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”