OBO ID: DOID:0111530
Term Name: linear nevus sebaceous syndrome Search Ontology:
Synonyms:
  • Jadassohn nevus phakomatosis
  • JNP
  • nevus sebaceus of Jadassohn
  • nevus sebaceus syndrome
  • organoid nevus phakomatosis
  • organoid nevus syndrome
  • Schimmelpenning Feuerstein Mims syndrome
  • Schimmelpenning syndrome
  • SFM syndrome
  • Solomon 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. (4)
References:
  • GARD:10291
  • OMIM:163200
  • ORDO:2612
  • SNOMEDCT_US_2023_03_01:707136009
  • UMLS_CUI:C3854181
Ontology: Human Disease   ( DOID:0111530 )
Relationships
is a type of:
OTHER linear nevus sebaceous syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HRAS Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 163200
KRAS Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 163200
NRAS Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 163200
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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