Search Ontology:
Human Disease
Dent disease
- Term ID
- DOID:0050699
- Synonyms
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- 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
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- 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 )
- is a type of
-
- has subtype
-
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Zebrafish Models
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