About: epidermolysis bullosa simplex with mottled pigmentation

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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://b50944630
label	epidermolysis bullosa simplex with mottled pigmentation
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111346
database_cross_reference	GARD:9737 MESH:C535959 OMIM:131960 ORDO:79397 SNOMEDCT_US_2021_09_01:254180002 UMLS_CUI:C0432316
has_exact_synonym	EBSMP (en) Epidermolysis bullosa simplex-MP (en) speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in KRT5 on chromosome 12q13.13.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50944631

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