\hˌa͡ɪpə͡ʊfˌɒsfɐtˈe͡ɪzi͡əz], \hˌaɪpəʊfˌɒsfɐtˈeɪziəz], \h_ˌaɪ_p_əʊ_f_ˌɒ_s_f_ɐ_t_ˈeɪ_z_iə_z]\
Definitions of HYPOPHOSPHATASIAS
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A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed)
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bcr v abl Oncogene
- Retrovirus-associated DNA sequences (abl) originally isolated from Abelson murine leukemia virus (Ab-MuLV). proto-oncogene abl (codes for a protein that member tyrosine kinase family. human c-abl gene is located at 9q34.1 on the long arm of chromosome 9. It activated by translocation to bcr 22 in chronic myelogenous leukemia.