autosomal dominant disease
- noun
- /ˌɔːtəˈsoʊməl ˈdɒmɪnənt dɪˈziːz/
- Specialized
:
enfermedad autosómica dominante
- Familial hypercholesterolemia is classified as an autosomal dominant disease due to a genetic mutation inherited from a parent.
Examples
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Huntington's disease is an autosomal dominant disease that affects individuals with just one copy of the mutated gene.
-
Familial hypercholesterolemia is an autosomal dominant disease in which there is a decreased number of LDL receptors.
Blog text (20) -
The neurofibromatoses are autosomal dominant diseases that have widespread effects on ectodermal and mesodermal tissue.
Academic text (2007) -
The neurofibromatoses, which are a group of conditions, are examples of an autosomal dominant disease characterized by tumor development.
Synonyms
1
6.5
A disease that happens when one copy of a gene on a non-sex chromosome changes
Surface Forms
Morphology
autosomal + dominant + disease
The phrase is fully compositional: 'autosomal' (relating to non-sex chromosomes) + 'dominant' (expressed when a single copy is present) + 'disease' (a medical condition) together directly describe a genetic disorder caused by a dominant gene on an autosome. This adjective-adjective-noun combination follows standard formation patterns and has close parallels in other languages, so a learner who knows the constituent terms can infer the full meaning.
Etymology
Autosomal dominant disease comes from the words autosome, meaning a 'non-sex chromosome', and dominant, meaning 'one faulty gene is enough' to cause the problem. Think of genes as pairs: if one of the two copies is wrong, that single bad copy can cause the disease, so a child of one affected parent has about a 50% chance of inheriting it.