nephrotic syndrome type 18

Term ID

DOID:0080393

Synonyms

Definition

A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP133 gene on chromosome 1q42. https://www.ncbi.nlm.nih.gov/pubmed/30179222

References

• MIM:618177

Ontology

Human Disease   ( DOID:0080393 )