nephrotic syndrome type 13

Term ID

DOID:0080381

Synonyms

Definition

A familial nephrotic syndrome characterized by early onset of steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis that has_material_basis_in homozygous mutation in the NUP205 gene on chromosome 7q33. https://www.ncbi.nlm.nih.gov/pubmed/26878725

References

• OMIM:616893

Ontology

Human Disease   ( DOID:0080381 )