Group of diseases

Articles

• histiocytoses
  19 July 2003

  histiocytopathies, histiocytosis, histiocytic disorders, histiocytic tumors, histiocytic proliferations, aggressive histiocytic disorders
  Digital cases
  HPC:290 : Nodal Histiocytic infiltration in Rosai-Dorfman disease
  HPC:338 : Nodal Langerhans histiocytosis with tuberculoid granulomatous pattern
  Cases
  Case 11335: Femoral Langerhans cell histiocytosis
  Case 12691: Faciocranial Langerhans cell histiocytosis
  Definition: Histiocytoses are a heterogeneous group of disorders that are (...)

• genomic disorders
  25 November 2003

  References
  Lupski JR. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet. 1998 Oct;14(10):417-22. PMID: #9820031#

• severe combined immunodeficiency
  29 November 2004

  SCIDs

• sclerosing bone disorders
  1 October 2003

  Pathology
  LDL receptor-related protein 5 (LRP5): mutations in osteoporosis-pseudoglioma syndrome and the high-bone-mass phenotype (#12579474#)

• single-gene diseases with nonclassic inheritance
  28 January 2006

  single-gene disorders with nonclassic inheritance

• sagittal craniosynostosis
  21 November 2003

  See also
  craniosynostoses

• Hedgehog-signaling related diseases
  25 November 2003

  Hh-signaling related diseases

• heterotaxy
  11 November 2003

  lateralization defects, anomalies of lateralization, situs anomalies, heterotaxies, heterotaxia, heterotaxy, laterality disorders, heterotaxies
  Definition: Heterotaxia (MIM.606325) is a group of congenital disorders characterized by a misplacement of one or more organs according to the left-right axis. It occurs in 1/10000 newborns and is often accompanied by severe organ malformations.
  Types
  situs inversus (or situs inversus totalis)
  situs ambiguus
  isomerisms (cardiac isomerism, (...)

• porphyrias
  4 February 2006

  porphyria

• anomalies of plasmalogens biosynthesis
  9 June 2003

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