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DO Term : nephrotic syndrome type 21 [DOID:0112267] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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 the AVIL gene on chromosome 12q14.1.
  • synonyms:
  • NPHS21,
  • 618594,
  • OMIM:618594
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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