Disease

Articles

• spondylocostal dysostosis
  8 May 2007

  SCDOs

• trisomy 21
  12 November 2004

  Down syndrome, trisomy 21 disease, trisomy 21 syndrome

• thanatophoric dysplasia
  5 July 2005

  thanatophoric dwarfism, thanatophoric dysplasias

• immunodeficiency with hyper-IgM type 5
  26 January 2011

  HIGM5

• amebiasis
  15 April 2005

  Images
  colorectal amebiasis https://twitter.com/ARP_Press/status/742827527232753664
  See also
  infections parasitic infections protozoan infections
  References
  Haque R, Huston CD, Hughes M, Houpt E, Petri WA Jr. Amebiasis. N Engl J Med. 2003 Apr 17;348(16):1565-73. PMID: #12700377#

• neurofibromatosis type 2
  28 October 2003

  NF2

• focal form of congenital hyperinsulinism
  3 May 2004

  focal adenomatous hyperinsulism; focah CHI, focal PHHI, focal form of hyperinsulinism of infancy; focal lesions in congenital hyperinsulinism

• hemochromatosis
  21 November 2003

  primary hemochromatoses; hereditary hemochromatosis, HFE, primary hemochromatosis
  Images
  hepatic hemosiderosis in hemochromatosis
  https://twitter.com/PrasFrancis/status/761564741231841280
  Types
  classical primary hemochromatosis (HFE1) (MIM.235200): HFE mutations at 6p21.3 (MIM.235200)
  juvenile hemochromatosis (HFE2s) (MIM.602390)
  HFE2A: HJV mutations (hemojuvelin) (MIM.608274)
  HFE2B: HAMP mutations (hepcidin antimicrobial peptide) (MIM.606464)
  hemochromatosis type 3 (HFE3) (...)

• Alagille disease
  31 May 2003

  Alagille’s syndrome, arteriohepatic dysplasia, syndromic paucity of interlobular bile ducts

• autoimmune polyendocrinopathy syndrome type I
  19 June 2004

  APECED

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