单词 | von hippel–lindau |
释义 | von Hippel–Lindaun. Pathology. von Hippel–Lindau disease n. (also von Hippel–Lindau's disease, von Hippel–Lindau syndrome, von Hippel–Lindau's syndrome) an inherited disorder characterized by the presence of haemangioblastomas in the cerebellum, in association with retinal angiomas and often with growths or cysts in the kidneys or pancreas. 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 1932 Trans. Ophthalm. Soc. 52 395 As to the familial and hereditary origin, this is of the utmost importance. So was published by Hartmann and Sourdille a case of von Hippel–Lindau's disease in which a young man showed angiomatosis of the retina. 1936 Bull. Neurol. Inst. N.Y. 5 72 The Von Hippel–Lindau disease may be familial and start early in life. 1961 Jrnl. Amer. Med. Assoc. 21 Oct. 282/1 The great variety of lesions seen in von Hippel–Lindau's disease suggests that the lesions arise from maldevelopment or malformation in fetal life in which some aberration occurs resulting in a potentiality for neoplastic growth in later life. 1970 Jrnl. Med. Genetics 7 156/2 This pedigree shows convincingly that autosomal recessive inheritance can operate as an alternative mode of transmission of Von Hippel–Lindau syndrome. 1987 D. J. Weatherall et al. Oxf. Textbk. Med. (ed. 2) II. xxi. 171/1 Tuberose sclerosis is associated with periventricular glioma, and von Hippel–Lindau disease with cerebellar haemangioblastoma. This entry has not yet been fully updated (first published 1993; most recently modified version published online December 2021). < n.1932 |
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