Chromosome 7 (human) - Diseases and Disorders

Diseases and Disorders

The following diseases are some of those related to genes on chromosome 7:

  • argininosuccinic aciduria
  • cerebral cavernous malformation
  • Charcot–Marie–Tooth disease
  • Charcot–Marie–Tooth disease, type 2
  • citrullinemia
  • congenital bilateral absence of vas deferens
  • cystic fibrosis
  • distal spinal muscular atrophy, type V
  • Ehlers–Danlos syndrome
  • Ehlers–Danlos syndrome, arthrochalasia type
  • Ehlers–Danlos syndrome, classical type
  • hemochromatosis
  • hemochromatosis, type 3
  • hereditary nonpolyposis colorectal cancer
  • lissencephaly
  • maple syrup urine disease
  • maturity onset diabetes of the young type 2
  • mucopolysaccharidosis type VII or Sly syndrome
  • myelodysplastic syndrome
  • nonsyndromic deafness
  • nonsyndromic deafness, autosomal dominant
  • nonsyndromic deafness, autosomal recessive
  • osteogenesis imperfecta
  • osteogenesis imperfecta, type I
  • osteogenesis imperfecta, type II
  • osteogenesis imperfecta, type III
  • osteogenesis imperfecta, type IV
  • p47-phox-deficient chronic granulomatous disease
  • Pendred syndrome
  • Romano–Ward syndrome
  • Shwachman–Diamond syndrome
  • Schizophrenia
  • Tritanopia or tritanomaly color blindness
  • Williams syndrome

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