Group of diseases

Articles

• congenital eye defects
  25 November 2003

  References
  Graw J. The genetic and molecular basis of congenital eye defects. Nat Rev Genet. 2003 Nov;4(11):876-88. PMID: #14634635#

• retinal dystrophies
  25 November 2003

  Exemples
  Doyne honeycomb retinal dystrophy (malattia leventinese) (MIM.126600)
  References
  Gregory-Evans K, Bhattacharya SS. Genetic blindness: current concepts in the pathogenesis of human outer retinal dystrophies. Trends Genet. 1998 Mar;14(3):103-8. PMID: #9540407#
  Chapple JP, Grayson C, Hardcastle AJ, Saliba RS, van der Spuy J, Cheetham ME. Unfolding retinal dystrophies: a role for molecular chaperones? Trends Mol Med. 2001 Sep;7(9):414-21. PMID: (...)

• mitochondrial respiratory chain diseases
  27 October 2003

  respiratory chain disease, mitochondrial respiratory chain dysfunction, mitochondrial respiratory chain, mitochondrial respiratory chain disorders
  deficiencies

• Chondrodysplasias
  6 October 2003

  Classification
  short-trunk chondrodysplasias
  rhizomelic chondrodysplasia punctata type 1
  cartilage-hair hypoplasia (CHH) (McKusick type metaphyseal chondrodysplasia)
  Ellis-van Creveld syndrome
  See also
  osteochondrodysplasias

• eosinophilic gastrointestinal disorders
  1 March 2004

  EGID

• allergy
  21 November 2003

  atopy, atopia, allergic inflammation

• digestive myopathies
  12 November 2003
• phagocyte defects
  30 May 2003

  defects of phagocytes

• Diseases
  12 November 2004

  Types
  developmental anomalies (Malformations )
  genetic diseases
  metabolic diseases
  infections (infectious diseases)
  dysimmunity and auto-immune diseases
  Tumors

• peroxisomal diseases
  23 September 2003

  peroxisome-biogenesis disorders, peroxisome biogenesis disorders, peroxysomal disorders, peroxisome biogenesis disorders, Zellweger syndrome spectrum

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