Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/609352 http://purl.bioontology.org/ontology/OMIM/609352
Preferred Name	EPIDERMOLYSIS BULLOSA SIMPLEX 2E, WITH MIGRATORY CIRCINATE ERYTHEMA
Synonyms	EBS2E EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA
Type	http://www.w3.org/2002/07/owl#Class

altLabel	EBS2E EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA
prefLabel	EPIDERMOLYSIS BULLOSA SIMPLEX 2E, WITH MIGRATORY CIRCINATE ERYTHEMA
Gene Symbol	EBS2E EBS2A EBS2C EBS2D KRT5 EBS2F EBS2B DDD1 See more See less
Scope Statement	Worsening of symptoms during summer [MISCELLANEOUS] Onset at birth [MISCELLANEOUS] Caused by mutation in the keratin 5 gene (KRT5, 148040.0017) [MOLECULAR BASIS] Improvement with age [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU074891 http://purl.bioontology.org/ontology/OMIM/MTHU074889 http://purl.bioontology.org/ontology/OMIM/MTHU074892 http://purl.bioontology.org/ontology/OMIM/MTHU074888 http://purl.bioontology.org/ontology/OMIM/MTHU074886 http://purl.bioontology.org/ontology/OMIM/MTHU074887 http://purl.bioontology.org/ontology/OMIM/MTHU074893 http://purl.bioontology.org/ontology/OMIM/MTHU074890 See more See less
tui	T047
Gene Locus	12q13
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	609352
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1836284
OMIM Entry Type	3
OMIM MimType Value	pound

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