About: dehydrated hereditary stomatocytosis 1

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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 dehydrated hereditary stomatocytosis nodeID://b50945087
label	dehydrated hereditary stomatocytosis 1
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111576
database_cross_reference	OMIM:194380
has_exact_synonym	dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (en) PSHK1 (en) pseudohyperkalemia familial 1, due to red cell leak (en) pseudohyperkalemia edinburgh (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in PIEZO1 on chromosome 16q24.3.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945088

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