Disease subtype

Articles

• early-onset sarcoidosis
  14 June 2005

  Etiology
  CARD15 mutations (#15459013#)
  References
  Kanazawa N, Okafuji I, Kambe N, Nishikomori R, Nakata-Hizume M, Nagai S, Fuji A, Yuasa T, Manki A, Sakurai Y, Nakajima M, Kobayashi H, Fujiwara I, Tsutsumi H, Utani A, Nishigori C, Heike T, Nakahata T, Miyachi Y. Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. Blood. 2005 Feb 1;105(3):1195-7. Epub 2004 Sep 30. PMID: (...)

• SCA5
  28 February 2006

  spinocerebellar ataxia type 5 (SCA5)

• Ehlers-Danlos syndrome type 4
  24 January 2005

  Ehlers-Danlos syndrome type IV, EDS4

• hidrotic ectodermal dysplasia type 2
  18 December 2007

  ED2

• OI type 2
  6 July 2005

  osteogenesis imperfecta type 2

• systemic cryptococcosis
  14 March 2007

  Images
  Cryptococcus disseminated to lung, spleen, kidney, thyroid. https://twitter.com/JMGardnerMD/status/866107567046610945
  Definition: Systemic infection by Cryptococcus neoformans.
  See also
  cryptococcosis (Cryptococcus neoformans)

• Kallmann syndrome type 1
  20 March 2007

  X-linked form of Kallmann syndrome, KAL1

• 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 (...)

• 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

• ARVD2
  4 December 2009

  arrhythmogenic right ventricular cardiomyopathy type 2; arrhythmogenic right ventricular dysplasia type 2; arrhythmogenic right ventricular dysplasia locus 2

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