Disease group (semiology)

Articles

• lymphoproliferative disorders
  20 August 2004

  LPD

• chondrodysplasia punctata
  14 January 2005

  stippled epiphysis, chondrodysplasia calcificans congenita, CPD

• Cowden-like syndromes
  26 August 2008

  Etiology
  germline mutations in PTEN gene (MIM.601728) SDHB of succinate dehydrogenase (#18678321#) SDHD of succinate dehydrogenase (#18678321#) BMPR1A gene (MIM.601299) (BMPR1A-associated Cowden-like syndrome)
  See also
  Cowden disease (MIM.158350)
  References
  Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, Platzer P, Orloff MS, Waite KA, Eng C. Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. Am J Hum Genet. 2008 (...)

• pemphiguses
  5 February 2006

  cutaneous pemphigus

• ichthyoses
  18 January 2005

  References
  Richard G. Molecular genetics of the ichthyoses. Am J Med Genet. 2004 Nov 15;131C(1):32-44. PMID: #15452860#

• diffuse lung disease in infancy
  4 February 2010

  DLDI, infantile chronic pneumonia, chronic pneumonia of infancy, diffuse lung disease in young children

• eosinophilic pulmonary disorders
  23 November 2004

  Types
  eosinophilic bronchitis
  eosinophilic pneumonia

• HIV-associated collapsing glomerulopathy
  12 March 2007

  See also
  glomerulopathies
  HIV-associated nephropathy (HIV-AN)
  collapsing glomerulopathy

• neonatal constitutional diarrhea
  25 March 2010

  congenital diarrhea, genetic neonatal diarrhea

• inherited ichthyoses
  27 October 2010

  inherited ichthyosis

0 | 10