Dent disease 2

Term ID

DOID:0081454

Synonyms

Definition

A Dent disease that is characterized by low molecular weight proteinuria and other features of Fanconi syndrome but typically do not include proximal renal tubular acidosis and that has_material_basis_in mutation in the OCRL gene on chromosome Xq26. https://pubmed.ncbi.nlm.nih.gov/15627218/

References

• MESH:C564487
• MIM:300555
• SNOMEDCT_US_2023_03_01:717790004
• UMLS_CUI:C1845167

Ontology

Human Disease   ( DOID:0081454 )