" /> Phakomatosis - CISMeF





Preferred Label : Phakomatosis;

NCIt synonyms : Phacomatosis; Neuro-Oculo-Cutaneous Syndrome;

NCIt related terms : Neurocutaneous Syndrome;

NCIt 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.;

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28/05/2025


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