ZFIN Human Disease: nephrotic syndrome type 21

OBO ID: DOID:0112267

Term Name:	nephrotic syndrome type 21		Search Ontology:
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:	OMIM:618594
Ontology:	Human Disease ( DOID:0112267 )

Relationships

is a type of:	autosomal recessive disease familial nephrotic syndrome autosomal recessive disease familial nephrotic syndrome Show first 5 Terms

OTHER nephrotic syndrome type 21 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
AVIL	avil	Nephrotic syndrome, type 21	618594

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None