ZFIN Human Disease: nephrotic syndrome type 12

OBO ID: DOID:0080387

Term Name:	nephrotic syndrome type 12		Search Ontology:
Synonyms:
Definition:	A familial nephrotic syndrome characterized by early childhood onset of steroid-resistant progressive renal failure with focal segmental glomerulosclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the NUP93 gene on chromosome 16q13. https://www.ncbi.nlm.nih.gov/pubmed/26878725
References:	OMIM:616892
Ontology:	Human Disease ( DOID:0080387 )

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 12 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NUP93	nup93	Nephrotic syndrome, type 12	616892

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None