Metadata | |
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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. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1652, http://ghr.nlm.nih.gov/condition/dent-disease, https://www.dentdisease.org/, http://en.wikipedia.org/wiki/Dent%27s_disease |
Xrefs |
SNOMEDCT_US_2023_03_01:444645005 |
Subsets |
DO_rare_slim NCIthesaurus |
Synonyms |
Dent's disease [EXACT] X-linked hypercalciuric nephrocalcinosis [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance |