Dent disease

Term ID

DOID:0050699

Synonyms

• Dent disease 1
• Dent disease 2
• Dent's disease

Definition

A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene. (4)

References

• GARD:13105
• MESH:C538212
• MESH:C564487
• MESH:D057973
• NCI:C123260
• OMIM:300009
• OMIM:300555
• ORDO:1652
• SNOMEDCT_US_2023_03_01:444645005
• SNOMEDCT_US_2023_03_01:717789008
• SNOMEDCT_US_2023_03_01:717790004
• UMLS_CUI:C0878681
• UMLS_CUI:C1845167
• UMLS_CUI:C1848336

Ontology

Human Disease   ( DOID:0050699 )