nephrotic syndrome type 11

Term ID

DOID:0080385

Synonyms

Definition

A familial nephrotic syndrome characterized by onset in the first decade of life of steroid resistant progressive renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15. https://www.ncbi.nlm.nih.gov/pubmed/26411495

References

• OMIM:616730

Ontology

Human Disease   ( DOID:0080385 )