Group of diseases

Articles

• glycogen storage diseases
  28 January 2006

  glycogenosis, glycogenoses, GSDs

• autoimmune diseases
  3 July 2003

  auto-immune diseases; autoimmunity
  Definition: Immune reactions against self-antigens-autoimmunity-are an important cause of certain diseases in humans, estimated to affect at least 1% to 2% of the US population.
  A growing number of diseases have been attributed to autoimmunity, but in many the evidence is not firm. Autoantibodies can be found in the serum of apparently normal individuals, particularly in older age groups.
  Furthermore, innocuous autoantibodies are also formed after (...)

• familial histiocytoses
  9 February 2010

  Familial forms of histiocytosis

• systemic diseases
  22 November 2004

  Types
  metabolic diseases
  immune system diseases
  systemic granulomatoses
  systemic vasculitis

• interstitial lung diseases
  1 March 2004

  diffuse parenchymal lung diseases (DPLD), interstitial pulmonary diseases

• distal arthrogryposis
  22 September 2003

  Distal arthrogryposes are characterized by multiple congenital contractures of the hands/wrists and feet/ankles.
  Classification
  DA1: distal arthrogryposis type 1 (MIM.108120)
  DA2A: distal arthrogryposis type 2A (MIM.193700)
  DA2B: distal arthrogryposis type 2B (ch. 11) (MIM.601680)
  DA2C: distal arthrogryposis type 2C
  DA2D: distal arthrogryposis type 2D
  DA3: distal arthrogryposis type 3 (Gordon syndrome) (MIM.114300) (camptodactyly, cleft palate and club-foot)
  DA4: distal (...)

• tumor predisposition syndromes
  19 June 2003

  cancer prone diseases, tumoral predisposition syndrome, cancer predisposition syndrome, tumor prone diseases, cancer susceptibility
  Cancer predisposition are related to anomalies of DNA metabolism, DNA repair, cell-cycle governance, or control of apoptosis.
  Classification
  anomalies of DNA metabolism rhabdoid tumor predisposition syndrome (INI1)
  dysregulation of telomere shortening dyskeratosis congenita (DKC)
  DNA repair anomalies DNA mismatch repair anomalies (HNPCC) base (...)

• vascular dysplasias
  25 July 2003

  congenital vascular syndromes, vascular malformations
  NB: We prefer the term "vascular dysplasias" for "vascular malformations" because of the risk of confusion with the malformations of vessels (vascular malformations).
  Digital cases
  HPC:423 : Small complex vascular malformation
  Types
  capillary malformations
  cerebral capillary malformation
  cutaneous capillary malformation ("port-wine stain")
  venous malformations
  arteriovenous malformations(arteriovenous fistula)
  glomus (...)

• disorders of sexual development
  24 November 2003

  disorders of sex development; disorders of sexual differentiation; DSD, intersexuality, sexual ambiguity, intersex disorders, intersex diseases; intersex anomalies, intersexuality, DSDs

• allergy
  21 November 2003

  atopy, atopia, allergic inflammation

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