Disease subtype

Articles

• Kozlowski type of spondylometaphyseal dysplasia
  11 February 2008

  SMD type Kozlowski

• SCA5
  28 February 2006

  spinocerebellar ataxia type 5 (SCA5)

• congenital cystic adenomatoid malformation type IV
  15 March 2004
• CMTXs
  15 October 2007

  X-linked Charcot-Marie-Tooth diseases

• CMT4A
  3 April 2005

  Charcot-Marie-Tooth disease type 4A

• cholesteryl ester storage disease
  2 December 2005

  CESD

• OI type 2
  6 July 2005

  osteogenesis imperfecta type 2

• C1 inhibitor deficiency-associated systemic lupus erythematosus
  30 August 2007

  C1 inhibitor deficiency-associated SLE, Systemic lupus erythematosus with C1q deficiency, Lupus erythematosus associated with C1 inhibitor deficiency

• Dowling-Meara type epidermolysis bullosa simplex
  16 April 2005

  Dowling-Meara type epidermolysis bullosa simplex is considered a form of epidermolysis bullosa simplex (EBS) distinguishable from the mild localized Weber-Cockayne type (MIM.131800) and the generalized Kobner (or Koebner) type (MIM.131900) both by its greater severity and by the presence on electron microscopy of large cytoplasmic clumps of tonofilaments, which are intermediate filaments composed of keratin.
  Synopsis
  blisters
  structural weakening of the epidermal basal cells, where (...)

• EDS1
  14 November 2003

  Ehlers-Danlos syndrome type I

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