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DO Term : Dent disease 2 [DOID:0081454] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • UMLS_CUI:C1845167,
  • OMIM:300555,
  • SNOMEDCT_US_2023_03_01:717790004,
  • MESH:C564487,
  • 300555
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents