Group of diseases

Articles

• foregut duplication cysts
  15 October 2003

  foregut cysts, thoracic

• 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 (...)

• glycogen storage diseases
  28 January 2006

  glycogenosis, glycogenoses, GSDs

• ovarian diseases
  25 July 2003

  Classification
  Developmental anomalies
  Gonadal dysgenesis Pure gonadal dysgenesis Mixed gonadal dysgenesis
  True hermaphrodism
  Testicular feminization
  Ovarian cysts
  Ovarian stromal hyperplasia
  Ovarian inflammation
  Ovarian endometriosis
  Ovarian tumors

• platyspondylic chondrodysplasias
  5 July 2005

  Types
  platyspondylic lethal short-limbed dwarwism (PLSDs) thanatophoric dysplasia type I (MIM.187600) San Diego type spondylodysplasia Torrance type spondylodysplasia Luton type spondylodysplasia
  achondroplasia
  metatropic dysplasia
  opsismodysplasia

• amniotic membrane fragility
  27 January 2005

  Etiology
  infectious chorioamnionitis
  heritable connective tissue diseases

• mitochondrial protein synthesis disorders
  20 November 2003

  References
  Jacobs HT. Disorders of mitochondrial protein synthesis. Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R293-301. Epub 2003 Aug 19. PMID: #12928485#
  Jacobs HT, Holt IJ. The np 3243 MELAS mutation: damned if you aminoacylate, damned if you don’t. Hum Mol Genet. 2000 Mar 1;9(4):463-5. PMID: #10699169#

• mitochondrial diseases
  28 May 2003

  mitochondrial cytopathy, mitochondriopathies, mitochondrial defects, mitochondrial cytopathies, mitochondrial disorders

• genetic diseases
  19 July 2003

  Inherited human diseases, genetic disorders, hereditary disorders in humans

• autoimmune endocrinopathies
  5 October 2004

  Classification
  Graves disease
  autoimmune hypothyroidism
  type 1 diabetes mellitus
  autoimmune Addison disease autoimmune sporadic Addison disease Addison disease in autoimmune polyendocrinopathy syndrome type 2

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