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phacomatose [1 record]

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Filter results by subject field

Alphabetical list of terms

Record 1 2000-03-08

English

Subject field(s)
  • Nervous System
DEF

Any of a group of congenital and heriditary developmental anomalies having in common selective involvement of the tissues of ectodermal origin (i.e., central nervous system, eyes and skin) and the development of disseminated glial hamartomas (phakomas) in these tissues.

OBS

The major syndromes in the group are neurofibromatosis, tuberous sclerosis, Sturge-Weber syndrome, von Hippel-Lindau disease, and ataxia telangiectasia.

French

Domaine(s)
  • Système nerveux
DEF

Groupe d'affections congénitales associant des malformations diverses du névraxe à des tumeurs de petite taille (phacomes), cutanées, nerveuses et oculaires, d'origine ectodermique.

Spanish

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