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phakomatosis

phakomatosis Phakomatosis is a group of inherited syndromes marked by lesions affecting the nervous system, skin, and retina.

Phakomatosis is a group of inherited syndromes marked by lesions affecting the nervous system, skin, and retina. Examples in this group include neurofibromatosis, tuberous sclerosis, von Hippel-Lindau syndrome, and Sturge-Weber syndrome.

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Drafting source: NCI Thesaurus. Flat export snapshot 2026-10-18. “Phakomatosis” (C84348).
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PsychTerms (psychterms.org), CC BY 4.0, version 1. “phakomatosis.” Development preview.

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phakomatosis

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