ACRODYSPLASIA V
\ˌakɹədɪsplˈe͡ɪzi͡ə vˈiː], \ˌakɹədɪsplˈeɪziə vˈiː], \ˌa_k_ɹ_ə_d_ɪ_s_p_l_ˈeɪ_z_iə v_ˈiː]\
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Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. Mental retardation and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE).
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
- acrodromous
- acrodrya
- acrodus
- acrodynia
- acrodynic erythema
- Acrodysplasia V
- acroesthesia
- acrogen
- acrogenae
- acrogenic
- acrogenous