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linear nevus sebaceous syndrome
Summary
- Synonym
-
- 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
- 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.
- Super Class
- syndrome
External Links
- Disease Ontology
- DOID:0111530
- Mondo Disease Ontology
- UMLS
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P01111 | GTPase NRas | |
| P01112 | GTPase HRas | |
| P01116 | GTPase KRas |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001305 | Dandy-Walker malformation |
| HP:0000506 | Telecanthus |
| HP:0001510 | Growth delay |
| HP:0001048 | Cavernous hemangioma |
| HP:0002007 | Frontal bossing |
| HP:0000612 | Iris coloboma |
| HP:0001347 | Hyperreflexia |
| HP:0000478 | Abnormality of the eye |
| HP:0001250 | Seizure |
| HP:0002119 | Ventriculomegaly |
