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:
Ontology: Human Disease   (DOID:0080387)
OTHER nephrotic syndrome type 12 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NUP93 Nephrotic syndrome, type 12 616892
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None