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DO Term : nephrotic syndrome type 23 [DOID:0112266] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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 the KIRREL1 gene on chromosome 1q23.1.
  • synonyms:
  • OMIM:619201,
  • NPHS23,
  • 619201
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents