Disease

Articles

• acute appendicitis
  2 September 2004

  Digital cases
  HPC:25 : acute appendicitis
  HPC:94 : acute appendicitis
  HPC:368 : Granulation tissue after acute appendicitis
  Videos
  Acute appendicitis (by Washington Deceit)
  Peri-appendiceal abscess (by Washington Deceit)
  Laparoscopic appendicectomy
  See also
  appendicectomy (videos)
  References
  Lamps LW. Appendicitis and infections of the appendix. Semin Diagn Pathol. 2004 May;21(2):86-97. PMID: #15807469#
  References
  Minimal added value of further blocks in negative (...)

• ring chromosome 4
  19 April 2005

  r(4)(p16—>q22.3) , deleted ring chromosome 4

• brachydactyly
  29 September 2003

  Classification
  brachydactyly type A
  brachydactyly type B
  brachydactyly type C
  brachydactyly type D
  brachydactyly type E
  Pathology
  missense mutations in the homeodomain of HOXD13 in brachydactyly type D and brachydactyly type E (#12649808#)

• acrocapitofemoral dysplasia
  29 September 2003

  Acrocapitofemoral dysplasia is a autosomal recessive skeletal dysplasia, characterized clinically by short stature with short limbs and radiographically by cone-shaped epiphyses, mainly in hands and hips.
  Etiology
  homozygous mutations in IHH, the gene encoding Indian hedgehog (2q35-q36)

• amelogenesis imperfecta
  26 May 2004

  Amelogenesis imperfecta (AI) represents a group of developmental conditions, genomic in origin, which affect the structure and clinical appearance of enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.
  The prevalence varies from 1:700 to 1:14,000, according to the populations studied. The enamel may be hypoplastic, hypomineralised or both and teeth affected may be discoloured, (...)

• trisomy 21
  12 November 2004

  Down syndrome, trisomy 21 disease, trisomy 21 syndrome

• STAT3-associated hyper-IgE syndrome
  30 June 2011

  autosomal dominant hyper-IgE syndrome; Autosomal dominant hyper-IgE recurrent infection syndrome / Job-Buckley syndrome; autosomal dominant HIES; Job syndrome; autosomal-dominant hyper-IgE syndrome; STAT3 deficiency
  Definition: Autosomal dominant hyper-IgE recurrent infection syndrome is caused by mutation in the STAT3 gene (MIM.102582) (Job-Beckley syndrome).
  Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent (...)

• juvenile polyposis
  11 March 2004

  Juvenile polyposis syndrome; JPS; JPD; Juvenile polyposis disease; digestive juvenile polyposis
  Autosomal dominant disease.
  JPS presents in childhood or adulthood with a history of rectal bleeding. The juvenile polyps may be limited to the colorectum or generalized throughout the gastrointestinal tract. Rarely, the stomach is the principal site of involvement.
  Genetic types
  MADH4-associated juvenile polyposis (SMAD4)
  BMPR1A-associated juvenile polyposis
  Images
  Juvenile polyposis. (...)

• xeroderma pigmentosum
  6 March 2004

  XP

• Gaucher disease
  1 October 2003

  Definition: Gaucher disease refers to a cluster of autosomal recessive disorders resulting from mutations in the gene encoding glucocerebrosidase. Acid beta-glucocerebrosidase, also known as beta-glucosidase (GBA) (EC 3.2.1.45), is a lysosomal enzyme that catalyzes the breakdown of the glycolipid glucosylceramide to ceramide and glucose.
  This disease is the most common lysosomal storage disorder. The affected gene encodes glucocerebrosidase, an enzyme that normally cleaves the glucose (...)

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