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nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A disorder characterized by the association of hereditary nephritis, epidermolysis bullosa, deafness, and beta-thalassemia minor.
Mondo Term and Equivalent IDs
MONDO:0012190:  nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome
MESH:C563798: 
Orphanet:300333: 
UMLS:C1836823: