Disease

Articles

• autosomal dominant polycystic kidney disease
  13 April 2004

  ADPKD

• trisomy 13
  12 January 2005

  Patau syndrome

• Griscelli disease
  17 September 2003

  Griscelli syndrome

• thanatophoric dysplasia
  5 July 2005

  thanatophoric dwarfism, thanatophoric dysplasias

• obesity
  19 April 2004

  Obesity is associated with many adverse health effects, including an increased risk of diabetes and heart disease.
  The combined condition of obesity, diabetes and heart disease is sometimes referred to as the metabolic syndrome.
  One of the factors that best correlates obesity with the rest of the metabolic syndrome is not overall body mass, but the distribution of adipose tissue in the abdominal region, visceral obesity.
  Obesity is a global epidemic resulting from sedentary lifestyles, (...)

• triple X syndrome
  26 February 2008

  trisomy X; 47,XXX; triploX

• common variable immune deficiency
  7 March 2005

  CVID, common variable hypogammaglobulinemia, late-onset hypogammaglobulinemia, common variable immunodeficiency. Ent. Janeway, 1953.

• central core disease
  28 July 2007

  Ent. 1956
  Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy. Prevalence is unknown but the condition is probably more common than other congenital myopathies.
  CCD typically presents in infancy with hypotonia and motor developmental delay and is characterized by predominantly proximal weakness pronounced in the hip girdle; orthopaedic complications are common and malignant (...)

• Opitz-Kaveggia syndrome
  5 October 2007

  OKS, FG syndrome

• lysosomal acid lipase deficiency
  2 December 2005

  Definition: Lysosomal acid lipase (LIPA, or LAL), otherwise known as acid cholesteryl ester hydrolase, is coded for by a gene (LIPA) on chromosome 10.
  Two major disorders, the severe infantile-onset Wolman disease and the milder late-onset cholesteryl ester storage disease (CESD), are seemingly caused by mutations in different parts of the LIPA gene.
  Images
  A 15 y.o. girl with Lysosomal Acid Lipase Deficiency. Liver. HE MT CD68 https://twitter.com/francesc_riu/status/847500260545048576 (...)

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