About: epidermolysis bullosa simplex Dowling-Meara type

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal dominant disease epidermolysis bullosa simplex nodeID://b50939276
label	epidermolysis bullosa simplex Dowling-Meara type
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060735
database_cross_reference	ICD10CM:Q81.0 OMIM:131760 ORDO:79396
has_exact_synonym	EBS-gen sev (en) EBSDM (en) epidermolysis bullosa herpetiformis Dowling-Meara type (en) epidermolysis bullosa simplex, herpetiformis (en) generalized severe epidermolysis bullosa simplex (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50939277

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