Disease subtype

Articles

• cholesteryl ester storage disease
  2 December 2005

  CESD

• congenital cystic adenomatoid malformation type IV
  15 March 2004
• OI type 1
  12 January 2005

  osteogenesis imperfecta type 1

• Kozlowski type of spondylometaphyseal dysplasia
  11 February 2008

  SMD type Kozlowski

• OI type 2
  6 July 2005

  osteogenesis imperfecta type 2

• EDS2
  24 January 2005

  Ehlers-Danlos syndrome type II

• ALPS1A
  27 January 2005

  autosomal recessive autoimmune lymphoproliferative syndrome type 1A

• ALPS1B
  27 January 2005

  ALPS1A
  MIM.601859

  Descriptif : autosomal recessive autoimmune lymphoproliferative syndrome type 1B

• undeterminate colitis
  8 November 2004

  indeterminate colitis
  Reference
  Prognostic significance of superficial fissuring ulceration in patients with severe "indeterminate" colitis. Yantiss RK, Farraye FA, O’Brien MJ, Fruin AB, Stucchi AF, Becker JM, Reddy SI, Odze RD. Am J Surg Pathol. 2006 Feb;30(2):165-70. PMID: #16434889#

• SCA5
  28 February 2006

  spinocerebellar ataxia type 5 (SCA5)

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