Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/619599 http://purl.bioontology.org/ontology/OMIM/619599
Preferred Name	EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE
Synonyms	EBS2D
Type	http://www.w3.org/2002/07/owl#Class

altLabel	EBS2D
prefLabel	EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE
Gene Symbol	EBS2E EBS2A EBS2C EBS2D KRT5 EBS2F EBS2B DDD1 See more See less
Scope Statement	Caused by mutation in the keratin-5 gene (KRT5, 148040.0022) [MOLECULAR BASIS] Based on report of 3 unrelated patients (last curated January 2022) [MISCELLANEOUS] Death may occur in neonatal period [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU003359 http://purl.bioontology.org/ontology/OMIM/MTHU075113 http://purl.bioontology.org/ontology/OMIM/MTHU075117 http://purl.bioontology.org/ontology/OMIM/MTHU008535 http://purl.bioontology.org/ontology/OMIM/MTHU075118 http://purl.bioontology.org/ontology/OMIM/MTHU075114 http://purl.bioontology.org/ontology/OMIM/MTHU000166 http://purl.bioontology.org/ontology/OMIM/MTHU075112 http://purl.bioontology.org/ontology/OMIM/MTHU075116 http://purl.bioontology.org/ontology/OMIM/MTHU075115 See more See less
tui	T047
Gene Locus	12q13
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	619599
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5562014
OMIM Entry Type	3
OMIM MimType Value	pound

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