ZFIN Human Disease: nephrotic syndrome type 22

OBO ID: DOID:0112268

Term Name:	nephrotic syndrome type 22		Search Ontology:
Synonyms:	NPHS22
Definition:	A familial nephrotic syndrome characterized by onset of progressive kidney dysfunction in infancy, edema, hypoproteinemia, proteinuria, microscopic hematuria, effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane that has_material_basis_in homozygous or compound heterozygous mutation in the NOS1AP gene on chromosome 1q23.3. https://pubmed.ncbi.nlm.nih.gov/33523862/
References:	OMIM:619155
Ontology:	Human Disease ( DOID:0112268 )

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 22 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NOS1AP	nos1apb nos1apa	Nephrotic syndrome, type 22	619155

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None