单词 | marinesco–sjögren syndrome |
释义 | Marinesco–Sjögren syndromen. Medicine. A hereditary (autosomal recessive) syndrome characterized by cerebellar ataxia, congenital cataracts, and mental retardation. ΘΚΠ the world > health and disease > ill health > a disease > congenital or hereditary syndromes > [noun] amyelia1865 amelia1872 congenital myotonia1886 myotonia congenita1887 Thomsen's disease1890 von Recklinghausen's disease1899 pseudoxanthoma1900 Werdnig–Hoffmann1903 myotonia atrophica1908 Fröhlich1909 Milroy's disease1909 Lindau disease1928 Steinert's disease1932 von Hippel–Lindau disease1932 Werner's syndrome1934 Sturge–Weber syndrome1935 gargoylism1936 Morgagni's syndrome1936 Hurler's disease1937 von Willebrand1941 Turner1942 autism1944 hypophosphatasia1948 Klinefelter1950 mucopolysaccharidosis1952 progeria1957 Pendred1960 Down's syndrome1961 Patau's syndrome1961 Marinesco–Sjögren syndrome1962 cri du chat syndrome1964 Prader–Willi syndrome1964 Noonan syndrome1965 Lesch-Nyhan syndrome1966 Wernicke–Korsakoff1966 Down1967 mannosidosis1969 mucolipidosis1970 Asperger's syndrome1971 Angelman syndrome1972 adrenoleukodystrophy1973 SCID1973 severe combined immune deficiency1973 Miller–Dieker syndrome1980 Asperger1988 Asperger's disorder1994 1962 A. Sorsby in A. Pirie Lens Metabolism 298 Marinesco-Sjögren syndrome: here there is an additional factor [to those in Sjögren's syndrome] of spino-cerebellar ataxia. 1977 Clin. Genetics 11 57 If linkage causes the concurrence of Marinesco–Sjøgren syndrome and hypergonadotropic hypogonadism in these kindreds, the linkage is close. 1991 Lancet 21 Dec. 1603/1 The autosomal recessive Marinesco-Sjögren Syndrome consists of congenital cataract, cerebellar ataxia (with or without cerebellar atrophy), and some mental retardation and neurogenic myopathy. This is a new entry (OED Third Edition, December 2000; most recently modified version published online March 2022). < n.1962 |
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