linear nevus sebaceous syndrome

Term ID

DOID:0111530

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. (4)

References

• GARD:10291
• OMIM:163200
• ORDO:2612
• SNOMEDCT_US_2023_03_01:707136009
• UMLS_CUI:C3854181

Ontology

Human Disease   ( DOID:0111530 )