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Human Disease

nephrotic syndrome type 9

Term ID
DOID:0080391
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 )
Relationships
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Genes Involved
Zebrafish Models