ribosomopathy

Example:The ribosomopathy is a congenital disorder affecting the structure of the ribosomes.

Definition:Existing at or being present from birth, often referring to genetic conditions.

Example:Clinical manifestations of ribosomopathies can vary widely, including hematological abnormalities and bone marrow failure.

Definition:A clear presentation or indication of a particular condition or disease, particularly in the medical context.

Example:Mutations in the genes encoding ribosomal proteins are a key factor in the development of ribosomopathy.

Definition:A change in the DNA sequence of an organism, which can lead to heritable changes in one or more genes.