Term Name: | linear nevus sebaceous syndrome |
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Synonyms: | Jadassohn nevus phakomatosis, JNP, nevus sebaceus of Jadassohn, nevus sebaceus syndrome, organoid nevus phakomatosis, organoid nevus syndrome, Schimmelpenning Feuerstein Mims syndrome, Schimmelpenning syndrome, SFM syndrome, Solomon syndrome |
Definition: | A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the NRAS, HRAS, or KRAS genes on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively. |
Ontology: | Human Disease [DOID:0111530] ( DOID:0111530 ) |