Online Mendelian Inheritance in Man - SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/163200 http://purl.bioontology.org/ontology/OMIM/163200
Preferred Name	SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME
Synonyms	JADASSOHN NEVUS PHAKOMATOSIS SFM SFM SYNDROME EPIDERMAL NEVUS SYNDROME, FORMERLY LINEAR SEBACEOUS NEVUS SYNDROME NEVUS SEBACEUS OF JADASSOHN ORGANOID NEVUS PHAKOMATOSIS JNP SEBACEOUS NEVUS SYNDROME, LINEAR
Type	http://www.w3.org/2002/07/owl#Class

altLabel	JADASSOHN NEVUS PHAKOMATOSIS SFM SFM SYNDROME EPIDERMAL NEVUS SYNDROME, FORMERLY LINEAR SEBACEOUS NEVUS SYNDROME NEVUS SEBACEUS OF JADASSOHN ORGANOID NEVUS PHAKOMATOSIS JNP SEBACEOUS NEVUS SYNDROME, LINEAR See more See less
prefLabel	SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME
Gene Symbol	KRAS2 RASK2 KRAS RALD NS OES CFC2 See more See less
Scope Statement	Secondary tumors develop within the skin lesions [MISCELLANEOUS] Caused by somatic mosaic mutation in the HRAS protooncogene, GTPase, gene (HRAS, 190020.0017) [MOLECULAR BASIS] Onset of skin lesions at birth [MISCELLANEOUS] Extracutaneous manifestations are variable [MISCELLANEOUS] Caused by somatic mosaic mutation in the KRAS protooncogene, GTPase, gene (KRAS, 190070.0005) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000128 http://purl.bioontology.org/ontology/OMIM/MTHU007306 http://purl.bioontology.org/ontology/OMIM/MTHU037008 http://purl.bioontology.org/ontology/OMIM/MTHU016698 http://purl.bioontology.org/ontology/OMIM/MTHU016697 http://purl.bioontology.org/ontology/OMIM/MTHU003459 http://purl.bioontology.org/ontology/OMIM/MTHU016701 http://purl.bioontology.org/ontology/OMIM/MTHU016702 http://purl.bioontology.org/ontology/OMIM/MTHU037101 http://purl.bioontology.org/ontology/OMIM/MTHU037013 http://purl.bioontology.org/ontology/OMIM/MTHU067308 http://purl.bioontology.org/ontology/OMIM/MTHU009220 http://purl.bioontology.org/ontology/OMIM/MTHU037016 http://purl.bioontology.org/ontology/OMIM/MTHU000031 http://purl.bioontology.org/ontology/OMIM/MTHU009436 http://purl.bioontology.org/ontology/OMIM/MTHU037007 http://purl.bioontology.org/ontology/OMIM/MTHU024170 http://purl.bioontology.org/ontology/OMIM/MTHU016699 http://purl.bioontology.org/ontology/OMIM/MTHU007365 http://purl.bioontology.org/ontology/OMIM/MTHU002160 http://purl.bioontology.org/ontology/OMIM/MTHU037011 http://purl.bioontology.org/ontology/OMIM/MTHU037015 http://purl.bioontology.org/ontology/OMIM/MTHU014885 http://purl.bioontology.org/ontology/OMIM/MTHU036756 http://purl.bioontology.org/ontology/OMIM/MTHU024005 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU000166 http://purl.bioontology.org/ontology/OMIM/MTHU024003 http://purl.bioontology.org/ontology/OMIM/MTHU024002 http://purl.bioontology.org/ontology/OMIM/MTHU037012 http://purl.bioontology.org/ontology/OMIM/MTHU016703 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU037017 http://purl.bioontology.org/ontology/OMIM/MTHU008498 http://purl.bioontology.org/ontology/OMIM/MTHU024004 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	12p12.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	163200
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU005777
cui	C4552097
Moved from	165630 601359
OMIM Entry Type	3
OMIM MimType Value	pound

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