About: Bothnian type palmoplantar keratoderma

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About: Bothnian type palmoplantar keratoderma Goto Sponge NotDistinct Permalink

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

Attributes	Values
type	Class
subClassOf	nonepidermolytic palmoplantar keratoderma autosomal dominant disease nodeID://b50945332
label	Bothnian type palmoplantar keratoderma
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111707
database_cross_reference	GARD:1862 OMIM:600231
has_exact_synonym	PPKB diffuse palmoplantar keratoderma, Bothnian type
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in AQP5 on chromosome 12q13.12.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945333

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