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Human Disease

nephrotic syndrome type 21

Term ID
DOID:0112267
Synonyms
  • NPHS21
Definition
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. https://pubmed.ncbi.nlm.nih.gov/29058690/
References
Ontology
Human Disease   ( DOID:0112267 )
Relationships
is a type of
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Genes Involved
Zebrafish Models