About: junctional epidermolysis bullosa

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

Xref MGI.

Attributes	Values
type	Class
subClassOf	epidermolysis bullosa
label	junctional epidermolysis bullosa
comment	Xref MGI.
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:3209
database_cross_reference	GARD:2152 MESH:D016109 NCI:C90598 SNOMEDCT_US_2021_09_01:76905008 UMLS_CUI:C0079301
has_exact_synonym	congenital junctional epidermolysis bullosa (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 located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin.
is subClassOf of	junctional epidermolysis bullosa with pyloric atresia junctional epidermolysis bullosa Herlitz type junctional epidermolysis bullosa non-Herlitz type
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50951653

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