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About: nephrotic syndrome type 23     Goto   Sponge   NotDistinct   Permalink

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

AttributesValues
type
subClassOf
label
  • nephrotic syndrome type 23
described by
id
  • DOID:0112266
database_cross_reference
  • OMIM:619201
has_exact_synonym
  • NPHS23
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A familial nephrotic syndrome characterized by onset of proteinuria in the first or second decade of life, mesangial hypercellularity, focal segmental glomerulosclerosis, and effacement of podocyte foot processes that has_material_basis_in homozygous or compound heterozygous mutation in KIRREL1 on chromosome 1q23.1.
is topic of
is annotatedSource of
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