ZFIN Human Disease: nephrotic syndrome type 9

OBO ID: DOID:0080391

Term Name:	nephrotic syndrome type 9		Search Ontology:
Synonyms:
Definition:	A familial nephrotic syndrome characterized by steroid-resistant proteinuria, hypoalbuminemia and edema with onset in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the COQ8B gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/24270420
References:	OMIM:615573
Ontology:	Human Disease ( DOID:0080391 )

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 9 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
COQ8B	coq8b	Nephrotic syndrome, type 9	615573

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None