C84348Level 6
Phakomatosis
**Semantic type:** Disease or Syndrome
**Definition:** One of the hereditary syndromes that are associated with lesions of the nervous system, skin, and retina. This group includes neurofibromatosis, tuberous sclerosis, von Hippel-Lindau syndrome, and Sturge-Weber syndrome.
**Synonyms:** - Neuro-Oculo-Cutaneous Syndrome - Neurocutaneous Syndrome - Neurocutaneous Syndrome - Phacomatosis
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