ZFIN Human Disease: nephrotic syndrome type 2

OBO ID: DOID:0080379

Term Name:	nephrotic syndrome type 2		Search Ontology:
Synonyms:	steroid-resistant autosomal recessive nephrotic syndrome
Definition:	A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS2 gene encoding podocin on chromosome 1q25-q31. (2)
References:	OMIM:600995
Ontology:	Human Disease ( DOID:0080379 )

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 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NPHS2	nphs2	Nephrotic syndrome, type 2	600995

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None