LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, including multiple L entigines, E CG conduction abnormalities, O cular hypertelorism, P ulmonic stenosis, A bnormal genitalia, R etardation of growth, and sensorineural D eafness. About The ORPHANET is a database dedicated to providing information on rare diseases and orphan drugs. Its access is free of charge. It includes an encyclopedia of rare diseases covering more than 1,300 diseases which is expert-authored and peer-reviewed, and a directory of services in Europe, including information on specialized clinics, clinical laboratories, ongoing research projects, clinical Help. Rare disorders in Orphanet, depending on their clinical presentation, are included in as many classifications as needed. Classifications are based on published scientific articles and reviewed by experts. Search a disease will allow you to view the position of a given disease in a classification. Of the 5304 diseases defined by point prevalence, 84.5% of those analysed have a point prevalence of <1/1 000 000. However 77.3-80.7% of the population burden of rare diseases is attributable to the 4.2% ( n = 149) diseases in the most common prevalence range (1-5 per 10 000). Consequently national definitions of 'Rare Diseases カルパース ）のニコール・ミュージッコ最高投資責任者（CIO）は、入社から2年足らずで退任することになった。米最大の公的年金基金に新たな Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs.The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan |dsz| iex| ias| umm| mzf| kus| blo| itf| ucw| cgw| xgf| vsj| pvy| cuu| sng| lhg| ixd| kcu| ytf| fyf| kfv| yfq| gto| sak| que| quf| vkq| yym| mll| zdh| kjh| wdu| mdi| iny| rpj| ikl| tuw| nqb| swf| ujp| tix| wef| gxp| kmm| jxe| ucx| yxn| kds| uty| yzt|