|  Help  |  About  |  Contact Us

DO Term : linear nevus sebaceous syndrome [DOID:0111530] Disease Ontology

Namespace  disease_ontology Obsolete  false
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.
  • synonyms:
  • 163200,
  • GARD:10291,
  • ORDO:2612,
  • organoid nevus syndrome,
  • OMIM:163200,
  • Schimmelpenning syndrome,
  • Schimmelpenning Feuerstein Mims syndrome,
  • organoid nevus phakomatosis,
  • nevus sebaceus of Jadassohn,
  • SNOMEDCT_US_2023_03_01:707136009,
  • JNP,
  • Solomon syndrome,
  • Jadassohn nevus phakomatosis,
  • nevus sebaceus syndrome,
  • UMLS_CUI:C3854181,
  • SFM syndrome
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents