What is another word for monogenic disorder?
13 synonyms found
[ mˌɒnə͡ʊd͡ʒˈɛnɪk dɪsˈɔːdə], [ mˌɒnəʊdʒˈɛnɪk dɪsˈɔːdə], [ m_ˌɒ_n_əʊ_dʒ_ˈɛ_n_ɪ_k d_ɪ_s_ˈɔː_d_ə]
Monogenic disorders are genetically inherited disorders caused by a mutation in a single gene. They can affect various systems in the body and have different clinical presentations. Synonyms for the term "monogenic disorder" include single gene disorders, genetic disorders, inherited disorders, and hereditary diseases. These terms are used interchangeably to refer to conditions that are caused by a single genetic mutation. Examples of monogenic disorders include cystic fibrosis, hemophilia, Huntington's disease, and sickle cell anemia. The identification and understanding of monogenic disorders is essential for early diagnosis and treatment, and for predicting disease course and inheritance patterns in affected families.