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Dictionary

Words, grammatical forms and meanings linked to the ontology.

phakomatosis en · NOUN

Pronunciation

  • /ˌfeɪkəʊməˈtəʊsɪs/
  • /ˌfæk-/

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.

Meanings

  1. Any of a group of neurocutaneous disorders of the central nervous system causing lesions on the skin and eye.

Forms

SpellingFeaturesLabelsSource
phakomatoses Number=Plur lexicographic
phacomatosis alternative lexicographic

Deriveds

phakomatosis pigmentokeratotica

Hyponyms

Wyburn-Mason syndrome · neurofibromatosis · ataxia-telangiectasia · Sturge-Weber syndrome · von Hippel–Lindau disease · nevoid basal cell carcinoma syndrome · angiophakomatosis · Jadassohn's nevus phakomatosis · tuberous sclerosis · incontinentia pigmenti

Synonyms

neuro-oculo-cutaneous syndrome · neurocutaneous syndrome · neurocutaneous disorder

wikipedia: Jan van der Hoeve