ZFIN Human Disease: nephrotic syndrome type 23

OBO ID: DOID:0112266

Term Name:	nephrotic syndrome type 23		Search Ontology:
Synonyms:	NPHS23
Definition:	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. https://pubmed.ncbi.nlm.nih.gov/31472902/
References:	OMIM:619201
Ontology:	Human Disease ( DOID:0112266 )

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 23 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
KIRREL1	kirrel1b kirrel1a	Nephrotic syndrome, type 23	619201

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None