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Concept information

Término preferido

KID syndrome  

Definición

  • Keratitis–ichthyosis–deafness syndrome (also known as "Ichthyosiform erythroderma, corneal involvement, and deafness," and "KID syndrome,") presents at birth/infancy and is characterized by progressive corneal opacification, either mild generalized hyperkeratosis or discrete erythematous plaques, and neurosensory deafness.It is caused by a mutation in connexin 26. (Wikipedia)

etiqueta alternativa (skos)

  • keratitis ichthyosis deafness syndrome

En otras lenguas

URI

http://data.loterre.fr/ark:/67375/VH8-HMRW6MZQ-3

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