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atypical hemolytic-uremic syndrome with DGKE deficiency

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0018159:  atypical hemolytic-uremic syndrome with DGKE deficiency
Orphanet:357008: 
UMLS:CN204596: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)