ECCENTROOSTEOCHONDRODYSPLASIA
\ˌɛksɪntɹˌuːstɪˌɒkəndɹˌɒdɪsplˈe͡ɪzi͡ə], \ˌɛksɪntɹˌuːstɪˌɒkəndɹˌɒdɪsplˈeɪziə], \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]\
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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
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Nearby Words
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