RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
A familial nephrotic syndrome characterized by onset in the first decade of life of progressive renal disease with proteinuria and membranoproliferative glomerulonephritis that has_material_basis_in homozygous or compound heterozygous mutation in the DGKE gene on chromosome 17q22. (DO)
Synonyms:
exact_synonym:
Ig-mediated MPGN; Ig-mediated membranoproliferative glomerulonephritis; Immunoglobulin-mediated MPGN; NEPHROTIC SYNDROME, TYPE 7, WITH MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS; NPHS7; immunoglobulin-mediated membranoproliferative glomerulonephritis; nephrotic syndrome type 7 with membranoptoliferative glomerulonephritis
narrow_synonym:
AHUS, SUSCEPTIBILITY TO, 7; AHUS7; NEPHROTIC SYNDROME, TYPE 7, WITH MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7