Disease subtype

Articles

• 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

• 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

• 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: (...)

• subcutaneous granuloma annulare
  31 January 2006

  pseudorheumatoid nodule

• 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#

• OI type 1
  12 January 2005

  osteogenesis imperfecta type 1

• Kozlowski type of spondylometaphyseal dysplasia
  11 February 2008

  SMD type Kozlowski

• EDS1
  14 November 2003

  Ehlers-Danlos syndrome type I

• OI type 2
  6 July 2005

  osteogenesis imperfecta type 2

• perforating granuloma annulare
  31 January 2006

  Definition: Epidermal perforation connected to the underlying necrobiotic granuloma annulare.

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