BLOOM TORRE MACHACEK SYNDROME
\blˈuːm tˈɒɹə mˈat͡ʃe͡ɪsək sˈɪndɹə͡ʊm], \blˈuːm tˈɒɹə mˈatʃeɪsək sˈɪndɹəʊm], \b_l_ˈuː_m t_ˈɒ_ɹ_ə m_ˈa_tʃ_eɪ_s_ə_k s_ˈɪ_n_d_ɹ_əʊ_m]\
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An autosomal recessive disorder characterized by telangiectatic erythema of the face, photosensitivity, dwarfism, and other abnormalities.
By DataStellar Co., Ltd
Word of the day
Dopamine Acetyltransferase
- An enzyme that catalyzes the of groups from acetyl-CoA to arylamines. They have wide specificity for aromatic amines, particularly serotonin, and can also catalyze acetyl transfer between arylamines without CoA. EC 2.3.1.5.
Nearby Words
- bloodybones
- bloodying
- bloom
- bloom of youth
- bloom syndrome
- Bloom Torre Machacek Syndrome
- bloom, honey
- bloomary
- bloomberg
- bloombug
- bloomed