ADPID
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Disease group (mechanisms)
Articles
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autosomal dominant primary immunodeficiencies
5 February 2008 -
hepatorenal dysplasia
7 December 2004renohepatic dysplasias
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inherited bleeding disorders
14 June 2005disorders of platelet adhesion and aggregation
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lipid absorption diseases
24 October 2005lipid absorption disorders
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X-linked immune diseases
10 November 2005X-linked immune syndromes
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inherited ossifying diseases
30 September 2009Inherited ossifying disease
Inherited ossifying diseases are relatively uncommon diseases leading ta a great disability and life-threatening complications.
The fibrodysplasia ossificans progressiva is characterized by the association of skeletal abnormalities mainly in great toes, and enchondral ossifications in tendons and muscles. BMP dysregulation seems to be the main underlying mechanism of the heterotopic ossifications. The genetic basis remain controversial between a mutation on (...) -
inflammatory barrier diseases
18 January 2006Chronic inflammatory diseases such as Crohn disease, atopic eczema, asthma and psoriasis are triggered by hitherto unknown environmental factors that function on the background of some polygenic susceptibility.
See also
intestinal barrier
References
Schreiber S, Rosenstiel P, Albrecht M, Hampe J, Krawczak M. Genetics of Crohn disease, an archetypal inflammatory barrier disease. Nat Rev Genet. 2005 May;6(5):376-88. PMID: (...) -
DNA repair diseases
20 June 2005DNA repair disorders
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intracellular movement diseases
9 January 2006intracellular movement disorders
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citrullinemia
25 September 2008classic citrullinemia, argininosuccinate deficiency, citrullinuria