Group of diseases

Articles

• distal spinal muscular atrophies
  21 November 2003

  distal spinal muscular atrophy, DSMAs

• inborn errors of isoleucine degradation
  26 September 2003

  Classification
  2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene (#12696021#)

• trinucleotide repeat diseases
  19 November 2003

  TRS, trinucleotide repeat syndromes, triplet repeat expansion diseases, trinucleotide repeat disorders, repeat expansion diseases

• gestational trophoblastic diseases
  18 November 2003

  gestational trophoblastic disorders, GTDs
  Definition: Gestational trophoblastic disease encompasses several disease processes that originate in the placenta. These include complete and partial moles, placental site trophoblastic tumors, choriocarcinomas, invasive moles, epithelioid trophoblastic tumor (ETT).
  Types
  hydatiform mole complete hydatiform mole partial hydatiform mole invasive hydatiform mole
  placental site trophoblastic tumors
  choriocarcinomas
  epithelioid (...)

• foregut duplication cysts
  15 October 2003

  foregut cysts, thoracic

• renal cystic diseases
  19 February 2004

  renal cystic disorders, multicystic kidneys, cystic kidney diseases (CKDs)

• connective tissue diseases
  17 November 2003

  connective tissue disorders

• mucolipidoses
  25 July 2003

  Classification
  mucolipidosis type I
  mucolipidosis type II
  mucolipidosis type III
  mucolipidosis type IV

• infectious diseases susceptibility
  29 October 2003

  genetic susceptibility to human infectious diseases

• polyglutamine repeat diseases
  16 July 2003

  expanded polyglutamine neurodegenerative disorders, polyQ diseases, polyglutamine disorders, triplet repeat neurodegenerative diseases, polyglutamine diseases, (CAG)n diseases

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