About: nephrotic syndrome type 21

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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 recessive disease familial nephrotic syndrome nodeID://b50946404
label	nephrotic syndrome type 21
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0112267
database_cross_reference	OMIM:618594
has_exact_synonym	NPHS21
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A familial nephrotic syndrome characterized by onset of rapidly, progressive kidney dysfunction in the first year of life, proteinuria, and diffuse mesangial sclerosis that has_material_basis_in homozygous or compound heterozygous mutation in AVIL on chromosome 12q14.1.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50946405

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