linear nevus sebaceous syndrome
Information
- Disease name
- linear nevus sebaceous syndrome
- Disease ID
- DOID:0111530
- 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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17366580, url:https\://www.ncbi.nlm.nih.gov/pubmed/1918493, url:https\://www.ncbi.nlm.nih.gov/pubmed/22683711, url:https\://www.ncbi.nlm.nih.gov/pubmed/24006476]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:10291
- Cross Reference ID (Disease Ontology)
- MIM:163200
- Cross Reference ID (Disease Ontology)
- ORDO:2612
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:707136009
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C3854181
- Exact Synonym (Disease Ontology)
- Jadassohn nevus phakomatosis
- Exact Synonym (Disease Ontology)
- JNP
- Exact Synonym (Disease Ontology)
- nevus sebaceus of Jadassohn
- Exact Synonym (Disease Ontology)
- nevus sebaceus syndrome
- Exact Synonym (Disease Ontology)
- organoid nevus phakomatosis
- Exact Synonym (Disease Ontology)
- organoid nevus syndrome
- Exact Synonym (Disease Ontology)
- Schimmelpenning Feuerstein Mims syndrome
- Exact Synonym (Disease Ontology)
- Schimmelpenning syndrome
- Exact Synonym (Disease Ontology)
- SFM syndrome
- Exact Synonym (Disease Ontology)
- Solomon syndrome