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| Term | Dent disease 1 | ID (Ontology) | DOID:0081453 (Human Disease) |
| Definition | 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. | ||
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| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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X-linked recessive disease_______ renal tubular transport disease__| Dent disease |__Dent disease 1 2 rec. |
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Relationships
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| Is a | Dent disease | ||
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Synonyms & Secondary IDs
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External Crossreferences & Linkouts
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MESH:C538212 MIM:300009 ORDO:93622 SNOMEDCT_US_2023_03_01:717789008 UMLS_CUI:C1848336 |
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