MeSH 搜索器

Zellweger Syndrome

An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.
推出的年份: 1989
副标题
树号: C06.552.970, C10.228.140.163.100.968, C12.050.351.968.419.978, C12.200.777.419.978, C12.950.419.978, C16.131.077.970, C16.320.565.189.968, C16.320.565.663.970, C18.452.132.100.968, C18.452.648.189.968, C18.452.648.663.970
MeSH 单一 ID: D015211
进入的组:
  • Zellweger's Syndrome
  • Zellweger Disease
  • Cerebro-Hepato-Renal Syndrome
  • Cerebro Hepato Renal Syndrome
  • Cerebrohepatorenal Syndrome
  • Zellweger-Like Syndrome
  • Zellweger Like Syndrome
  • Zellweger Spectrum
  • Spectrum, Zellweger
  • Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
  • Zellweger Syndrome Spectrum
  • PBD, ZSS
早前的内容:
  • Abnormalities, Multiple (1968-1988)
  • Brain Diseases (1966-1988)
  • Kidney Diseases (1966-1988)
  • Liver Diseases (1966-1988)

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