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:
Ontology: Human Disease   (DOID:0080391)
OTHER nephrotic syndrome type 9 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COQ8B Nephrotic syndrome, type 9 615573
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None