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DOID:0111530 - linear nevus sebaceous syndrome
Disease Ontology 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.
Synonyms: Nevus sebaceus of Jadassohn, Jadassohn nevus phakomatosis, nevus sebaceus syndrome, organoid nevus phakomatosis, Schimmelpenning syndrome, SFM syndrome, nevus sebaceus of Jadassohn, JNP, organoid nevus syndrome, Schimmelpenning Feuerstein Mims syndrome, Solomon syndrome
Xenbase Genes
:
hras,
nras,
kras
| MIM:163200 - SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; SFM |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s):
syndrome (is_a)