About: epidermolysis bullosa simplex

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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	epidermolysis bullosa
label	epidermolysis bullosa simplex
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:4644
database_cross_reference	ICD10CM:Q81.0 GARD:10752 MESH:D016110 NCI:C84692 OMIM:601001 OMIM:615425 ORDO:304 SNOMEDCT_US_2021_09_01:205585003 UMLS_CUI:C0079298
has_exact_synonym	Epidermolysis bullosa simplex (en)
has_obo_namespace	disease_ontology
in_subset	NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin.
is subClassOf of	epidermolysis bullosa simplex Dowling-Meara type epidermolysis bullosa simplex Ogna type epidermolysis bullosa simplex localized type epidermolysis bullosa simplex generalized type epidermolysis bullosa simplex with mottled pigmentation
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50953148

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