You are using an outdated browser. Please upgrade your browser to improve your experience.

familial steroid-resistant nephrotic syndrome with sensorineural deafness

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description An autosomal recessive disorder characterized by onset in infancy of severe progressive nephrotic syndrome resulting in end-stage renal failure and sensorineural deafness. Renal biopsy usually shows focal segmental glomerulosclerosis.
Disease Ontology Description A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ6 on chromosome 14q24.3.
Mondo Term and Equivalent IDs
MONDO:0013836:  familial steroid-resistant nephrotic syndrome with sensorineural deafness
Orphanet:280406: 
UMLS:C3553349: