Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
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:0002132 | Porencephalic cyst |
| HP:0002353 | EEG abnormality |
| HP:0002514 | Cerebral calcification |
| HP:0002816 | Genu recurvatum |
| HP:0003422 | Vertebral segmentation defect |
| HP:0004422 | Biparietal narrowing |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum |
| HP:0007400 | Irregular hyperpigmentation |
| HP:0009720 | Adenoma sebaceum |
