autosomal dominant tubulointerstitial kidney disease 5

Term ID

DOID:0061120

Synonyms

Definition

An autosomal dominant tubulointerstitial kidney disease characterized by the onset of progressive chronic renal disease in the first decades of life that has_material_basis_in heterozygous mutation in the SEC61A1 gene on chromosome 3q21. https://pubmed.ncbi.nlm.nih.gov/27392076/

References

• MIM:617056

Ontology

Human Disease   ( DOID:0061120 )