Linear Nevus Sebaceous Syndrome
Disease ID: disease_node_20239
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| Dbxref | GARD:10291, MIM:163200, ORDO:2612, SNOMEDCT_US_2023_03_01:707136009, UMLS_CUI:C3854181 |
|---|---|
| Subclassof | DOID_225 |
| Data Source | DOID |
| Synonyms | JNP, Jadassohn nevus phakomatosis, SFM syndrome, Schimmelpenning Feuerstein Mims syndrome, Schimmelpenning syndrome, Solomon syndrome, nevus sebaceus of Jadassohn, nevus sebaceus syndrome, organoid nevus phakomatosis, organoid nevus syndrome |
| Doid Label | linear nevus sebaceous syndrome |
| Doid Description | 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. |
| Disease Node Id | disease_node_20239 |
| Doid Id | DOID_0111530 |
| Label | Linear Nevus Sebaceous Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)