ECCENTROOSTEOCHONDRODYSPLASIAS
\ˌɛksɪntɹˌuːstɪˌɒkəndɹˌɒdɪsplˈe͡ɪzi͡əz], \ˌɛksɪntɹˌuːstɪˌɒkəndɹˌɒdɪsplˈeɪziəz], \ˌɛ_k_s_ɪ_n_t_ɹ_ˌuː_s_t_ɪ__ˌɒ_k_ə_n_d_ɹ_ˌɒ_d_ɪ_s_p_l_ˈeɪ_z_iə_z]\
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Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme.
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
- eccentrically
- eccentricities
- eccentricity
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- eccentroosteochondrodysplasia
- Eccentroosteochondrodysplasias
- eccentropiesis
- eccephalosis
- ecchondroma
- ecchondrosis
- ecchondrotome