| Metadata | |
|---|---|
| ID | DOID:0050699 |
| Name | Dent 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. http://en.wikipedia.org/wiki/Dent%27s_disease, http://ghr.nlm.nih.gov/condition/dent-disease, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1652, https://www.dentdisease.org/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:444645005 SNOMEDCT_US_2023_03_01:717789008 SNOMEDCT_US_2023_03_01:717790004 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Dent disease 1 [EXACT] Dent disease 2 [EXACT] Dent's disease [EXACT] |
| Parent Relationships |