phakomatosis
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English
Alternative forms
Etymology
From phak- + -omato- + -osis, from the Greek φακός (phakós, “spot, lens”), -ωμα (-ōma, “process”), and the suffix -osis; the term was introduced by Dutch ophthalmologist Jan van der Hoeve in 1920, before the distinct genetic basis of each of these diseases was understood.
Pronunciation
Noun
phakomatosis (plural phakomatoses)
- Any of a group of neurocutaneous disorders of the central nervous system causing lesions on the skin and eye.