| Metadata | |
|---|---|
| ID | DOID:0111530 |
| Name | linear nevus sebaceous 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. https://www.ncbi.nlm.nih.gov/pubmed/17366580, https://www.ncbi.nlm.nih.gov/pubmed/1918493, https://www.ncbi.nlm.nih.gov/pubmed/22683711, https://www.ncbi.nlm.nih.gov/pubmed/24006476 |
| Xrefs |
SNOMEDCT_US_2023_03_01:707136009 |
| Subsets |
DO_rare_slim |
| Synonyms |
Jadassohn nevus phakomatosis [EXACT] JNP [EXACT] nevus sebaceus of Jadassohn [EXACT] nevus sebaceus syndrome [EXACT] organoid nevus phakomatosis [EXACT] organoid nevus syndrome [EXACT] Schimmelpenning Feuerstein Mims syndrome [EXACT] Schimmelpenning syndrome [EXACT] SFM syndrome [EXACT] Solomon syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |