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DO Term : Dent disease 1 [DOID:0081453] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Dent disease that is characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure and that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11. Extra-renal involvement is absent.
  • synonyms:
  • ORDO:93622,
  • OMIM:300009,
  • SNOMEDCT_US_2023_03_01:717789008,
  • UMLS_CUI:C1848336,
  • 300009,
  • MESH:C538212
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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents