Disease subtype

Articles

• cholesteryl ester storage disease
  2 December 2005

  CESD

• Ehlers-Danlos syndrome type 4
  24 January 2005

  Ehlers-Danlos syndrome type IV, EDS4

• 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: (...)

• hidrotic ectodermal dysplasia type 2
  18 December 2007

  ED2

• alpha-thalassemia
  15 January 2006

  References
  Monaco SE, Davis M, Huang AC, Bhagat G, Baergen RN, Lorenz JM, Chung WK, Thaker HM. Alpha-thalassemia major presenting in a term neonate without hydrops. Pediatr Dev Pathol. 2005 Nov-Dec;8(6):706-9. PMID: #16328666#
  Weatherall DJ. Thalassaemia: the long road from bedside to genome

• SCA5
  28 February 2006

  spinocerebellar ataxia type 5 (SCA5)

• EDS2
  24 January 2005

  Ehlers-Danlos syndrome type II

• 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 (...)

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