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disease > eye disease > Kniest syndrome
disease > rare disease > Kniest syndrome
disease > congenital disease > malformation > platyspondylia > Kniest syndrome
disease > diseases of the osteoarticular system > spine disease > platyspondylia > Kniest syndrome
disease > congenital disease > malformation > spondyloepiphyseal dysplasia > Kniest syndrome
disease > dysplasia > bone dysplasia > spondyloepiphyseal dysplasia > Kniest syndrome
disease > diseases of the osteoarticular system > bone dysplasia > spondyloepiphyseal dysplasia > Kniest syndrome
disease > genetic disease > hereditary disease > spondyloepiphyseal dysplasia > Kniest syndrome
... > disease > diseases of the osteoarticular system > osteochondrodysplasia > dwarfism > spondyloepiphyseal dysplasia > Kniest syndrome
disease > diseases of the osteoarticular system > spine disease > spondyloepiphyseal dysplasia > Kniest syndrome
disease > deformation > kyphosis > kyphoscoliosis > Kniest syndrome
... > disease > diseases of the osteoarticular system > spine disease > kyphosis > kyphoscoliosis > Kniest syndrome
disease > deformation > scoliosis > kyphoscoliosis > Kniest syndrome
... > disease > diseases of the osteoarticular system > spine disease > scoliosis > kyphoscoliosis > Kniest syndrome

Preferred term

Kniest syndrome  

Definition

  • Kniest dysplasia is a rare form of dwarfism caused by a mutation in the COL2A1 gene on chromosome 12. The COL2A1 gene is responsible for producing type II collagen. (Wikipedia)

Broader concept

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URI

http://data.loterre.fr/ark:/67375/VH8-Q1GSJ2K9-T

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